5 PRINCIPLES OF INHERITANCE AND

VARIATION

LEARNING OUTCOMES
Wben ths chaãner is completed. the students shoeld be able to:
eeteses phae Rte. dominzne, recessTive, monobybrid cross, dihybrnd crOSs, etc.
" iie nomynd ad ynd crosses cooducted by Mendel.
" pz the tre zs Menáel proposed from his bybnidisztion
experiments on garden pea.
"plan he dvoons from Mendelizn rztios ue to incomplete dominance, codominance and multiple allelism.
" pz kg s seeo in Drsophila by
Morgzn et al.
" rplz tte difiea etaisns of sen
deermination in animals.
" gai pleiotrogy adpoygenic inheritance znd diffeentizte each of them from
Mendelian inheritance of traits.
erplzn petigee znalysis znd construct pedigree charts.
aplam the two czegornes of genetic disorders-Mendelian disorders and
them chromosomal disorders and distinguish between

IMPORTANT TERMS AND CONCEPTS

5.1. MENDEL'SLAWS OF
INHERJTACE
5.1.1. Mesdel's Experimental Materíal
Mendel conducted experiments on garden pea (Pisum
of inheritance. sativum) for seven years (1856-1863), before proposing the laws
He selected those varieties of garden pea that
forns, ie. he selected fourteen true-breedingdiffered with respect to seven traits with casily
varieties as shown in the table given below: distinguishable contrasting
S.No. Character Alternate Forms
Domínant Recessive
Stem height Tall Dwarf
2 Flower colour Purple
3. Seed colour Yellow
White
Green
4 Seed shape Round
Wrinkled
Pod colour Green
Yellow
6 Pod shape Inflated
7 Flower position Axillary
Constricted
Terminal
Mendel first made sure that cach of the fourteen varieties (seven pairs of
allowing successive generations to self-pollinate and eliminating any
offspringcontrasting forms) was
truc-breeditrue-brecdi
ng. ng,
that was not by
 113
Principles of Interitace znd Vzriation
IVHERIANC CE OF OVE GENE
m t r i d crsses d heo in
K2. studied the inheritance of each of the seen cheracters individually by condig
" Hecormbinations by conducting dihybrid and trihybrid crosses.

M) Trredple frm
Female
Parert
() 2agging an frut

0) EmaSOtaion

(N) Sowing of seeds

and growing of
plants of next
generation

Progeny
plants

Fig 5.1Steps in Hybridisation of Plants

(a) Mendel's observation A monohybrid test cross is as follows:
) The F, hybrids always showed one of the parental The F, hybrid ofa cross between pure tall plant
forns of the trait. and a pure dwarf plant is cTOSsed with 2 dwarf
(in Both the parental forms of the trait (contrasting plant, i.e Tt tt
forms of the trait) appeared without any change Purert. Hybrid tall Pure dwarf
in the F, generation. (Tt) (t)

(iii) The two contrasting forms of a trait did not show

any blending either in the F, generation or in the Gamete
F, generation.
Progeny
(iv) The form of the trait that appeared in the Tt
F, hybrids, is called dominant form. It appeared in Tall
the F, generation about three times in frequency tt
as its alternate (recessive) form. Dwarf
(b) Mendel's inferences
Mendel made the following inferences from his The progeny consists of tall and dwarf plants in
observations: the ratio of 1: 1.
() The characters are controlled by some 'factors' The Mendelian monohybrid test cross ratio is
that are stably passed down without any 1:1.
change from the parents to the offspring, If the dominant plant had been homozygous, i.e.
through the gametes. TT, then the progeny will have all tall plants as
(ii) The factors occur in pairs. given below:
(iii) In a pair of dissimilar factors of a trait, one Parents Pure tallI Pure dwarf
of them dominates the other and expresses (TT) (tt)
itself in the hybrid, while the other remains
hidden and is recessive. Gametes: T
(c) Test Cross
It is a cross devised by Mendel, where the
offspring or individual with dominant phenotype
whose genotype is not known, is crossed with an Tt (Tall)
individual homozygous recessive for the trait. Progeny:
 114 getke a Biology12
5.2.1. Law of Dominance The fornm of the trait which appears in he
dominanthybrlriaiditn.
This law explains the erpnesion of only one of the heterozygous condition, is called
foms of the parentaltrait in the F, hybrid and both whercas the form of the trait that renmains
the forms in the F, generation.
52.2 Law of Segregatien
the hybrid is recessive trait.
hidden
Ahomazygous individual produces only onetype of gametes, while a heterozygous individual/hybrid
pes of gametes in qual frequencies produces
- The following eample can explain the inheritance pattem:
Pareets Tall Plant Dwarf Plant
(TT) (tt)

genration T (Tall)
Selt-lnaton t I TI
Gametes

gneraton
T

TT Tt
T
Tall Tall
Tt
Tall Dwarf
T3i plarnts
Dwart plant 1
In this casc, tallncss is dominant over dwarfness and it has appecared in the F, generation.
The reccessive character, dwarfness, has remaincd hidden in the F,
generation, but appeared again in the F, generation.
5.2 3. Incemplcte Deminance
5.2.4. Multiple Allelism and Codominance
The phenotype of the hybrid offpring does not rescmble In this phenomenon, the oflspring shows resomblance
any of the parents, but is intermediate between the two. to both the parents,
The inheritance of flower colour in dog Nower/ Awell-known example of this phenomenon is the
snapdragon (Antirrhinum majus) is an cxample of inheritance of ABO blood groups in man.
this phenomenon. The gene for blood group oxists in throe allelic forms,
Parcts Red-flowered White-flowercd
I^, and i.
RR Any individual carries two of these thrcc allelos.
(R
The allele I^ produces a glycoprotein A, found on the
surface/membrane of red blood colls.
The allele |" producos glycoprotoin B,
surface/membrane of red blood colls. found
on tho
I, eçtaton Rr (Pink-flowered)
Self-pollmates Rr Rr The allelc i docs not produco any
The allele |^ is dominant ovori undglycoprotein.
tho allelo " is also
Gametes
dominant over .
R When the allclcs 1^ad aro toyother, they uro
Rr dominant and both tho glycoprotoins, oqually
produced. A and B aro
Red Pink
Rr The blood group is
Pink White doterminod by the prosonco 0r
absence of one or both tho glycoprotoln8, I.e. groUp
A hus glycoprotein A,
Tho phenotypic and genotypic ratios are the Aume, I.e group AB has both tho group hus lyooprotoln B,
B
IRod (RR) : 2 Pink (K) : IWhite () hus ncither of the. ulycoprolelns, whilo group O
 115
Principles of Inheritance and Variation

three alleles, six different genotypes are Possíble genotype(s)

Sincethere are Blond groap
possible, which produce four different phenotypes, L.e. A
^M or i
B, AB and O. P; or i
blood groups A,
of blood group character follows
The inheritance
AB
pattern of inheritance.
Mendelian
INHERITANCE OF TWO GENES
5.3. Assortment
LHW of Independent was
5.3.1.
law was proposed by Mendel based on the results of dihybrid crosses, where inheritance of two traits
This
considered simultancously.
pure-breeding plant with
The following cross between a pure-breeding plant with yellow. round seeds and another
seeds, can be taken as an example to explain this law.
green, wrinkled
Parents: Yellow, round Green, wrinkled
Seeds Seeds
YYRR YyrT

Gametes: (YR)

I, generation: YyRr (Yellow, round seeds)

Selt-pollination: YyRr YyRr

Gametes:
R.(Y.R) (YR). (Yr). (yR) VT

F,generation: YR Yr yR Yr
YYRR YYRr YyRR YyRr
YR yellow, yellow, yellow, yellow,
round round round round
YYRr YYrr YyRr Yyrr
Yr yellow, yellow, yellow, yellow,
round wrinkled round Wrinkled
YyRR YyRr yyRR yyRr
yR yellow, yellow, green, geen,
round round round round

YyRr Yyrr yyRr yyr

yr yellow, yellow, green, green,
round wrinkled round wrinkled

The Phenotypic ratio is:

yellow yellow green green
round wrinkled round wrinkled
3 3
-
The genotypie ratio is:
YyRr YYrr
YYRR YYRr YyRR
2 2 4

Yyrr yyRR yyRr yyrr

2 2
scgregated independently and
In this cross, tho fuctors for the colour of secds and those for the shape of sceds have
cnch gumeto us one hctor for cuch of these two traits.
 116 ke Biology-12

Adihvbnd test cross is shown below:

with an individual homozygous recessive for those
An indrvtual hetervos for two traits is crossed
Green, wrinkled-seeded
Parents Yellow, nound-seeded
YyRr yyr

(yr
(VR) VT

yT
Phgen YR Yr

YyRr YyTT yyRr yyr

vellow, yellow, green, green,
ound wTinkled round wrinkled

Tbe ihytidtst nio isl:1:1:1

Smr hs rof sis to determine the genotNe of an individual, it is called a test cross.
532Chremesemal Tbeor ef Inheritance
Thgh Mendiel uhlished his wok and the laws of inhenitance in I865, they remained unrecognised uill 1900,
In 1900, de \is Comens and Tchermark independently rediscovered Mendel's results on the inheritance of character
Wzher Suton znd Thador Boveri independently postulated this theory in 1902.
- TH Morgan workai on fruit fis (Drasonhila
melanogaster).

leiogyte
(Germ mother cel)

Prophase

Possbity l
Possbity Il

-Araphase |

-Araphase li -

- Daughter cels
gametes -

Fig. 5.2 Segregation and

Independent assortment of
chromosomes during meiosis
S33. Linhage and
Recombination
Morgan et al obsernved that when thetwo genes in a
dihybrid cross are
of parental gene
combinations in the progeny was much higher than thelocated on the same
recombination)of genes. non-parental chromosome, the proportion
new or
They also found that the
proportion of recombinants varics, even if combinations (also called
chromosome. the IWO
genes are
present on the same
 Principles of Inheritance and Varnation 117
Cross I
Cross II
2
Parents

Yellow White
body eyed
Wid type Whte Miniature Wid tre
eyed wngs

F, generation

Wild type Yellow White Wid type Vihte Mrature

body eyed eyed
F, generation Parental type Recombinart
(98.7%) types (1 3%)
Parental type Recomtrat
(62 8%) types (37 2%)

Wild type Brown White Wid type Red Mriature

body eyed eyed wngs
y w

Yellow Whte Yeilow Red White Minature Whte Normal

body eyed body eyed eyed wings eyed wings

yw W m

W
Wild type Brown White Wild type Red Minature
body eyed eyed wiIngs
W W

y w m
Yellow White Yellow Red White Miniature White Nomal
body eyed body eyed eyed wngs eyed Wings
Wld type :Brown Body (y') Wid type: Red eyes (w)
Nomal wings (m )]
Red eyes (w
Fig. 53 Dihybrid erosses conducted by T.H. Morgan on Drosophila
54. POLYGENIC INHERITANCE
but there are several characters which
" The traits studied by Mendel in garden pea have two distinct alternate forms:
are not so distinct in their occurrence.
. Such traits are called polygenic traits, since they are controlled by a number of genes.
" Human skin colour, height and intelligence are some examples of polygenic traits.
" Polygenic inheritance also takes into account the influence of environment.
Human skin colour is believed to be controlled by three different genes, A, B, and
C, where darkness is dominant over
.
light skin colour.
" The alleles of the three genes show Mendelian pattem of inheritance.
with the darkest skin and the lightest skin that produce
" In the following cross, there is mating between individuals
oftspring with intemediate skin colour.
the F, progeny will be as follows:
" WhenF, individuals are crossed anmong themselves,
Darkest Lightest
Parents: aabbcc
AABBCC
abc
ABC
Gametes:

AaBbCe
(Intermediate skin colour)
F generation:
AaBbC
AaBbCe
Cross between
F, generation: abe from cach
Abc aBC aBc ab
Gamctes:
ABC(ABeAbC
 118 ka Bology 12

ABC ABc AbC Abc aBC aBc abC abc

AABBCCI AABBC<AABCCIAABbCC AaBBCC AaBBCc AaBbCC AaBbCc
ABC

AABBCc AABBOc AABbCc AABbcc AaBBCc AaBBcc AaBbCc AaBbcc

ABC

AABbCC AAB6Cc AAbbCC AAbbCc AaBbCC AaBbCc AabbCC AabbCc

AbC

AABbCe AABbce AAbbCc AAbbcc AaBbCc AaBbcc AabbCc Aabbcc

Abe

AaBBCC AaBBCcAaBbCC AaBbCc aaBBCC aaBBCc aaBbCC aaBbCc

aBC

AaBBCc AaBBcc AaBbCc AaBbce aaBBCc aaBBcc aaBbCc aaBbcc

aBe

AaBbCC AaBbCc AabbCC AabbCc aaBbCC aaBbCc aabbCC aabbCc

abC

AaBbCc AaBbcc AabbCc Aabbce

abc
aaBbCc aaBbcc aabbCc aabbcc

The phenotypic ratio is

88:88:888:388:888:88:888
: 15: 20 : 15: 6: 1
Fig S4 Polygenic inheritance of human skin colour
<< PLEIOTROP)

" The genotypes and the phenotypes for the two traits
Plciotropy is the phenomenon where a single genc are as follows:
Cxhibits multiplc phenotypic cxpression. BB- Round seeds, large starch grains.
" The mechanism responsible for Bb- Round seeds, intermediate sized starch
pleiotropy is the effect grains.
of the plciotropic genc on thc metabolic bb - Wrinkled seeds, small starch
pathways that grains.
contributc towards the different phenotypes. Here, it can also be mentioned that
an autonomous feature of the genedominance
is not
" Phenykdonurna (an cxample of pleiotropy) is adisorder or its product,
caused by mutation in the genc coding for the cnzyme. but it depends on the
production of a particular
pheny lalaninc hydroxylase. phenotype from the gene product.
" The phenotyps controlled by his genc are mental 5.6. SEN-DETERMINATION
reardaton and reduction in the pigmentation of hair " The concept of
and sk1n determination genetic/chromosomal
came from the
basis of sex
made in a cytological observations
number of insects.
" Even n garden peas, pleiotropy hzs been obsenved in " H.
Henking (1891) could trace a
the foliow ing characters
structure all through spermatogenesisspecific
in a few
nuclear
() Starch synthes1s Size of starch grains and the He obsenved that $0% of
the sperms insects.
shanc of soeás are controlled by one gene. structure, while the remaining 50% did notreceived this
() Flowe okour and sced coat coiour are found to Henking named the structure as Xbody. but receive it;
Cxplain its signifcance. could not
be controlied by thc sane gerne. " Later it was found to be a
named as X-chromosome chromosome and it wasS
 Variation 119
Principles of Inheritance and
characteristic features of this
determination is of the foilowing types: The special
are
" Sex determination system af sex-deterrnination
(a) X0-type of Sex the male honeybees do
ot have a fher.
Alarge number of insects like grasshopper
show XO type of sex determination. but have a grandfather.
sons. but can have
The males have autosomes and only one 3 they do not have
X chromosome, while females have two X grandsons.
chromosomes.
5.7. MUTATIOY
The males produce two types of gametes with alteration in the sequences
Gene mutations result in
reference to sex chromosomes (heterogarmetic).
of bases of DNA or a change
in the base and thereby
ie.. some gametes with one X chromosome of an orgaism
and some with no X chromosome. change in the genotype and phenotype
change in a single base
determination A gene mutation that involves mutation: a classical
(6) XY-type of Sex point
In insects like Drosophila melanogaster and in pair of DNA, is called
human beings, this type of sex-determination example of point mutation is sickle-cell anaemia
biological factors which
is seen. " The physical, chemical or
These organisms also show male heterogamety. induce mutations, are called mutagens.
It is as given below: 5.8. GENETIC DISORDERS
Parents Female Male
XX XY 5.8.1. Pedigree Analysis
trace the
Gametes : Pedigree analysis is the important tool to disease
inheritance of a specific trait, abnormality or
and study human genetics.
XX XY the following
Ofispring In a pedigree chart, conventionally
Female (50%) Male (50%) symbols are used:
sex-determination
(c) ZW-type of ’ Circles denote females.
This type of sex determination is seen in ’ Squares denote males.
certain birds.
Male
The males have ZZ sex chromosomes while
females have ZW sex chromosomes. Female
The females are heterogametic and the males
are homogametic. Sex unspecified
(a) Haplodiploid sex-determination
Aected individuals
This type of sex-determination is seen in
honeybees; it is based on the number of sets
of chromosomes, an individual receives. Mating
The male honeybee (drone) is haploid (with Mating between relatives
n=16 chromosomes) and forms sperms by (consanguineous mating)
mitosis.
The sex-determination is as follows: Parents above and
children below
Female Male
Parents: X (in order of birth, left to
(2n =32) (n = 16)
ight)
Meiosis Mitosis
Parents with male child
affected with disease
Gametes : (16)
Fve unaffected offspring

Parthenogenesis Fertilisation Fig. 5.5 Symbos used in Pedigree Charts

Mating is shown by a horizontal line connecting
Progeny Male Female
(2n = 32) a male symbol with a female symbol.
(n = 16)
 120 ke a Biology12
= Offping symbols are aranged from left to right An open or clear symbol
in the order ofbirh and connected by a honizontal
represents the abscy
of the trait or abnormality under
Iine helow the narents, and this line is connected Genetic disorders can be grouped
sludy.
to parent'mamiage line by a vertical line. categories: into i
Asohd blackened symbol represents the individual Mendelian disorders and
with the trait being studied.

8Mendelan Diorders
disorders.
Chromosom:
Ihe disorder are transmitted from one generation to the next following Mendel's principles of heredity.
Inheritance ofMendelian disorders can be represented in pedigree charts; the following pedigrees are given as exambl.
for (a) an autosomal dominant (b) an autosomal recessive and (c) a sex-linked disorder.

(a) Autosomal, dominant trait

III

(b) Autosomal, recessive trait

(c) Sex-linked, recessive trait

Fig, 5.6 Representative Pedigree Charts

5.7.3. hromosomnal Disorders The chromosomal

These are caused due to absence or excess or abnormal individual can be foundabnormalities/disorders
out by karyotyping.
in an
arrangernent (Structure) of one or more chromosomets) The
in an individual.
chromosomal disorders may be autosomal (e.g.
Down's syndrome) or sex
Such a situation leads to serious consequences in the chromosomal (e.g. Turner's
syndrome, Klinefelters syndrome,
individual.
ctc).
 Principles of Inheritance and Variation 121

NCERTINTEXT QUESTIONS
What would be the phenotype of the plant that has Parent AA
a genotype Tt?
Garmctes A
be tall
plant would
A0s. The think he (Mendel) would
do you have got, Prozeny Aa
2. What tallF, plant? All individual in the progeny will be tall.
bad he self-pollinated a
If the tall
plant he had self-pollinated were A cross between a heterozygous individual with a
homozygous, 1.e. ol genotype TT, he would have homozygous recessive individual
the F,.
got all tall plants in Parents Aa
he had self-pollinated
If the tall plant were Gamctes
heterozygous, I.e. of genotYpe Tt, he would have F, generation A
got the following types of plants: Aa aa

Tall Tall
Parents The progeny will consist of individuals of
Tt Tt dominant phenotype and those of recessive
Gametes DO phenotype equal proportions.
(b) The ratio is 1:lin the second cross.
T t
F, Progeny (c) Atest cross is a cross in which an individual with
TT Tt dominant phenotype, but unknown genotype 1s
T
Tall Tall crossed with a homozygous recessive individual
Tt t of the same species.
Tall Dwarf 4. Can you tell which of the characters in the pairs,

He would have got tall and dwarf plants in the ratio yellow/green colour and round/wrinkled shape of
seeds was dominant?
3: 1. Ans. Yellow colour and round shape of seeds are dominant.
3. (a) Using a Punnet square, try to find out the nature 5. Although there are 16 squares, how many different
of offspring in a test cross.
phenotypes and genotypes are formed?
(6) What ratio do you get? Ans. There are four different phenotypes and nine different
(c) Using the genotypes of this crOSs, can you give genotypes.
a general definition of a test cross? 6. Is the sperm or the egg, responsible for the sex
Ans. (a) Across between a homozygous dominant individual determination in chick?
and a homozygous recessive individual. Ans. The egg is responsible.

NCERT EXERCISES
5.1. Mention the advantages of selecting pea plant for experiment by Mendel.
Ans. Mendel selected garden pea for two reasons:
(i) Many varieties were available with observable alternate forms for a trait/character.
(i) Peas are generally self-pollinated (self-fertilised) and can be casily cross-pollinated when self-pollination is prevented.
S.2. Differentiate between the following:
(a) Dominance and Recessive. (b) Homozygous and Heterozygous.
(c) Monohybrid and Dihybrid.
Ans. (a) Dominance Recessive

Dominance refers to the phenomenon exhibited by Recessive refers to the phenomenon exhibited by
the form of a trait, which expresses itself in the the form of a trait, which remains suppressed or
heterozygous (hybrid) condition. hidden in the heterozygous (hybrid) condition.
122 e Biology12
Heterozygous
()
- Iiis th onditonHomozygous
in which the members of a pair of - It isthe condition in which the members of apair
of alleles for a character are different.
alleles foa charater are similsr.
Individual with such a condition is
- Individusl with sh a ondition is pure-breeding not pure.
breeding.
Dibybrid
Monohybrid
Itisthe individual that issl heterozygous for tthe
- Itis h individual that is hetenzvgous for the alleles (of two genes) controlling two characters/traitsalleles
(of a gene) controlling ne charactertrait.

S3. Adiploid organism is beterorygous for 4loci, how 5.5. Define and design a test-cros.
Ans, - Atest coss is a crossdevised by Mendel,
many ypes of gametes can be produced?
the offspring or an individual with a where
Ans l6 types of gametes, ie. (2". domi nan
phenotype, whose genotype is not known, is crossel
S4. Explain the Law of Dominance asing a monohybrid with an individual homozygous for the recessive
Toss
trait.
ARs - Law of dominance states that dominance is a - When ahybrid or heterozygous individual is crose
phenonexon, in which one allele of agene expresses with an individual homozygous recessive for the
itselfand suppresses the erpression ofthe other allele trait, the progeny will consist of the dominan
of the same gene, when they are present together in phenotype and recessive phenotype in equal
a tytrid proportions.
When a ross was made between two pea plants, Parents Hybrid Tall Pure Dwarf
X

one wth tall stem (homozygous) and the other with (T) (tt)
dwzrf stem, the F, individuals had tall stem. Gametes :
- When the F, individual is self-pollinated, the F,
Progeny t
individuals produced were tall and dwarf in the
ratio of 3:1. Tt
Tall
Parents Tall Dwarf
tt
(TT) (tt
Dwarf
Gametes
The phenotypic and genotypic ratios are the same.
1Tall (Tt): 1 Dwarf (tt)
Tt (tall)
- If the dominant individual had been
Seifing Tt Tt homozygous, all
the individuals of F, would have been tall (hybrid
Gametes tall).
F- generation T Parents: Pure Tall Pure Dwarf
TT Tt
T (TT) (tt)
Tall Tall
Gametes :
Tt tt
Tall Dwarf
Progeny
The phenotypic ratio is 3 Tall: I Dwarf Tt (tall)
5.6. Using aPunnett Square,
- The genotypic ratío is I TT: 2 Tt : It workout the distribution
- In this case, tallness is dominant over dwarfness, of phenotypie features in the first
after a cross between a
Allal
generation
which is recessive and not expressed. homozygous female and
heterozygous male for a single locus.
 Principles of Inheritance and Variation 123

The female may be homozygous recessive or Cross II (Where the female is homozygous dominant)
Ans. homozygous dominant.
Parents : Homozygous Heterozyous
Cross I (Wherethe female is homozygous recessive)
female male
Homozygous
female
Heterozygous BB Bb
male
Parents
bb Bb Gametes :
Gametes:
(b) Progeny :
B

Progeny :
b BB
Dominant
Bb
Dominant
phenotype
B
Bb
phenotype
b Dominant
bb
phenotype
Recessive
phenotype All the individuals in the progeny show dominant
phenotype.
Dominant phenotype : Recessive phenotype = l:1
E1 When a cross is made between a tall plant with yellow seeds (TtYy) and a tall plant with green seeds (Ttyy).
what proportions of phenotype in the offspring could be expected to be: (a) tall and green (b) dwarf and green.
Ans. Parents Tall, yellow Tall. green
TtYy Ttyy
TY ()()
Gametes
(T)(
Progeny : TY Ty tY ty

TTYy TTyy TtYy Ttyy

Ty
Tall, yellow Tall, green Tall. yellow Tall, green
TtYy Ttyy ttYy ttyy
ty
Tall, yellow Tall, green Dwarf, yellow Dwarf. green
(a) Tall and green: 3/8
(b) Dwarf and green: 1/8.
5.8. Two heterozygous parents are crossed. If the two (ii) He also found that linked genes may show a
loci are linked, what would be the distribution of phenomenon called linkage: the genes that are
phenotypic features in F, generation for a dihybrid tightly linked, showed very low recombination
cross? frequency, while those that are loosely linked
Ans. - If the loci show complete linkage, all the offspring showed a higher recombination frequency, but
will be of the parental types only. less than 50% in a test progeny.
If the loci show incomplete linkage, the parental 5.10. What is pedigree analysis? Suggest how such an
types and recombinants would appear in the progeny, analysis, can be useful.
but the recombinants will be in a small proportion. Ans. - Pedigree analysis is an analysis of the distribution
Ifthe linked loci are far apart., the progeny will show and movement of traits in a series of generations
Mendelian dihybrid ratio, i.e. 9:3:3:1. of a family.
S.9. Briefly mention the contribution ofT.H. Morgan in It is an important method to study human genetics.
genetics. Genetic disorders occurring in a family can be
Ans. () Morgan conducted experiments on Drosophila identified and the movement of the trait in the future
and discovered sex-linked inheritance of traits. generations can be predicted.
124 aartse n Biology-12
Sl1. How is sex determined in human bcings? S.13. Explain the following terms with example
\nc - Ahuman female (mother) produces ova, all (a) Co-dominance
Containing one X-chromosome and 22 autosomes. (b) Inconmplete dominance
A human male (father) producces sperms of two Ans, (a) Co-dominance is the phenomenon
Iyps s0%of them carying one X-chromosome allcles of agene are cqually dominant which
and cxprtges
and 2? autosomes while the other 50% carrying themsclves in the presence of the other,,
Y-chromosome and 22 autosomes.
aretogether in an iindiividual, eg. bloood when they
group AB.
The sex of the child is determined by the type of inthis, the alleles and are codominant
spem fertilising the ovum. and both
expresssthemselves producing tthe
If the ovum is fertilised by a sperm carry1ng
X-chromosome, a female child results.
and B, making the blood group AB. glycoprotcins A
(b) Incomplete dominance is the
- If the ovum is fertilised by a sperm carrying
Y-chromosome, a male child is formed.
phenomenon
which neither of the two alleles of a
in
gene is
completely dominant over the other and the hybs
Parents Female Male
X is intermediate between the two parents, e.g. flower
XX XY
colour in snapdragon, the homozygous dominanti
Gamete : red-flowercd, the homozygous recessive is white.
Progeny: X flowered and the hybrid is pink-flowered.
XX XY 5.14. What is point mutation? Give one example.
X
Female Male Ans. - Point mutation refers to the mutation arising due to
5.12. A child has blood group 0. If the father has blood a change in a single base pair of DNA, e,g. sickle
cell anaemia.
group Aand mother has blood group B, workout the
genotypes of the parents and the possible genotypes The defect is caused by a single base substitution at
of the offsprings. the sixth codon (GAG to GUG) of the genc coding
Man Woman for beta globin chain.
A blood group B blood group Consequently, amíno acid, glutamic acid is substitutc
Child by valine at the sixth position of the beta globin
O blood group protein.
The child has O blood group, whose genotype is 5.15. Who had proposed the chromosomal theory of the
homozygous recessive (i), where one allele has inheritance?
come from each of the parents. Ans. Sutton and Boveri.
So. both the parents must be heterozygous for the
5.16. Mention any two autosomal genetic disorders with
blood group character.
their symptoms.
Pures : Father Mother
Ans. () Sickle cell Anaemia:
A blood B blood
- It is an autosomal recessive disorder
goup roup
controlled by a single paír of alleles, Hb
and Hb

Individuals with genotype Hb' Hb' are the

victims while those with Hb Hb' are the
carriers of the diseasE.
The mutant
ABtlsd group P-blocd goup haermoglobin undergoes
polymerisation under low oxygen pressurc
and causes chanye in the shape of RBCs from
bicmcave divc to clonzated
Tre progery offspring mayhave biord gupn A, Bor structure, sickle-shaped
AB also. a r fror .
 Principles of Inherilance and Variation 125
()Phenylketonuria:
As a result, phenylalanine is metabolised
tis Causcd by a reccssive mutant allele on into phenyl pyruvate. phenyl acetate. tc.
chromosome 12.
Accumulation of these chemicals in the brain
The affected individuals lack an enzymc that results in mental retardatíon.
eatalyses the conversion of the amino acid These are also excreted in the urine. as they
phenylalaninc into tyrosinc.
are not absorbed by the kidney rubules.

SOLVED QUESTION BANK

Short Answer Type Questions [1 Mark] 9. What is meant by blending inheritance?
Very
I. Define inheritance. Ans. Blending inheritance is thc phenomenon in which the
expression of atrait is due to mixíng or blending of the
Ans.
Inheritance is defineddas the process by which characters
are nassed on from onc generation to
the next parental characters and the traitex pressed is in between
genetics? the two parental forms of the trait: the parental forns
2. What is of the trait never reappear in the subscquent progenies.
Ans.
Genetics is the branch of science that deals with
inheritance and variation of traits. 10. State a difference between a ene and an allele.
study (Delhi 20161
1 What are true-breeding lines that are used to
inheritance pattern of traits in plants? |Dellhi 2014| Ans. - A gene is a unit of inheritance, which contains
true-brecdingline is oneetthat has undergone continuous information that is required to express a particular
Ans. A
self-pollination/inbrecding and shows stable inheritance trait in an organism.
and cxpression of a trait for several generations. An allele is one of the slightly different forms of a
4. List any two characters of pca plants used by Mendel gene that codes for a contrasting trait.
in his experiments, other than height of the plant 1. What is meant by genotype?
and colour of the seed. |Dellhi 2017C) Ans. The genetic constitution of an organism, is called its
Ans. Colour of the pod, shape of the pod, colour of the flower. genotype.
position of the flower, shape of the seed. (any two)
12. What is phenotype?
5. Name two contrasting pod-related traits studied by
Mendel, in pea plant experiments. |AI 2011CI Ans. The observable or external appearance of a character
Ans. - Pod colour: Green pods and yellow pods. of an organism, is its phenotype.
Pod shape: Inflated pods and constricted pods. 13. Mention the type of allele which expresses itself only
(uny one) in homozygous condition in an organism.
|Foreizn 20111
6. Mention two contrasting flower-related traits studied
by Mendel in pea plant experiments. (A1 2011CI
Ans. Recessive allele.

Ans. - Flower position:Axial flowers and terminal flowers 14. What is a monohy brid cros?
- Flower colour: Violet flowers and whíte flowers. Ans. Monohybrid cross is a cross made betwcen two
(any one) individuals of a species, considering the inheritance
of the contrasting pair of a single character/trait.
1. Mention any two contrasting traits with respect to
seeds in pea plants that were studied by Mendel. 15. Why is a plant with genoty pe Tt referred to as
|AI 2014| heterozygous?
Ans. - Seced shape: Round and wrinkled. Ans. Since the alleles for the contrasting forrns of atraít are
Seed colour: Yellow and green. (any one) dissirmilar. it is referred to as heterorygous.
h. What is the proof for or what indicates that the 16. State the fate ofa pair of autosomes during garnete
characters Mendel studied did not show blending? formation.
|HOTSI Ans. The mermbers of a pair of astosones seyregate during
Am. The parental forms of the traít appear without any garnete formation and erter different garnetes
change in the F, generation.
 126 agcke a Biology-12
27. Name the type of cross that would
1. British geneticist R.C. Punnett developed a
graphical representation of a genetic cross called genotype of a pea plantt bearing violet
help to
'Punnett Square'. Mention the possible result this
representation predicts of the genetic eross carried. Ans. Atest cross with a pea plant bearing
flowers,
white
|Delhi 2019|
Ans. This graphical representation predicts the probability
28. In atest cross progeny of pea plants, all flo wers.
violet flowers. Givethe genotypes of thewere bearine-
of all possible genotypes of of'spring in the genetic plants. IA 2012 parent t
C; lotspea
cross carmied out.
Ans. The genotypes of the parent pea plants are
IS. Write the percentage of the pea plants that would be VW and
29. Why in atest cross, did Mendel cross a tall
bomozygous recessive in the F, generation, when tall with adwarf pea plant only? |Foreign 2012:pea plant
Ans. Dwarfness is arecessive trait which is expressed HOTS
F, beterozygous pea plants are selfed. |Delhi 2012C|
Ans. 25 per cent
homozygous condition; so, he was sure ofthe only in
19. Write the percentage of the pea plants that would
be heterozygous tall in the F, generation, when the
of the dwarf plant as tt. genotype
tall beterozygous F, pea plants are selfed. 30. Across was carried out between two pea plants
|Delbi 2012C) showing the contrasting traits of height of the piam
Ans. 50 per cent. The result of the eroSs showed S0% of parental
20. Write the percentage of F, homozygous and characters. Name the type of cross.
heterozygous populations in a typical monohybrid |CBSE Sample Paper 2018
cross. (Foreign 2010| Ans. It is a(monohybrid) test cross.
Aos. Homozygous population - 50 per cent. 31. Name and state the law of Mendel, which explains
Heterozygous population - 50 per cent. the expression of only one of the parental characters
21. When a tall pea plant was self-polinated, one-fourth in the F, progeny of amonohybrid eross. |H0TS.
of the progeny were dwarf. Give the genotype of the Ans. Law of dominance states that in a dissimilar pair of
parent and the dwarf progenies. |HOTS|
Ans. Parent - Tt Dwarf progenies - t. factors, one member of the pair dominates (dominant)
the other (recessive).
22. A garden pea plant (A) produced iniated, yellow
32. Which law of inheritance of Mendel, is universally
pods and another plant (B) of the same species
produced constricted, green pods. Identify the acceptable without any exception? State the law.
dominant traits. |Delhi 2012)
|CBSE Sunple Paper 2010: HOTS
Ans. Infiated pods and green pods are dominant traits. Ans. Law of Segregation states that the members of the
23. A garden pea plant produced axial violet flowers. allelic pair that remained together in the hybrid,
Another of the same species produced terminal violet segregate or separate during gametogenesis and enter
different gametes.
flowers. Identify the dominant traits. |AL 2012|
33. Name the type of inheritance in which the
ratio is the same as the phenotypic ratio. genotypic
Ans. Axial flowers and violet flowers are dominant traits.
24. Agarden pea plant produced round, green seeds. the ratio.
Also give
Anotber of the same species produced wrinkled,
Ans. - Incomplete dominance is the
yellow seeds. Identify the dominant traits. phenomenon.
- The phenotypic and
|Foreign 2012| genotypic ratio of F, progeny
in a monohybrid cross is I :2:1.
Ans. Round seeds and yellow seeds are dominant traits.
34. Name any one plant and its
25. Write the possible genotypes Mendel got, when he feature that shows the
crossed F, tall pea plant with a dwarf pea plant. phenomenon of incomplete dominance.
|Foreign 201 2: HOTSJ Ans. Snapdragon (Antirrhinum sps) shows incomplete
Ans. Tt and tt. dominance in the inheritance of its flower colour.
26. Mendel observed two kinds of ratios, 3 : 1and 35. Give an example of a plant, where the F,
1:2: 1, in the F, generation in his experiments of a
monohybrid cross has the same genotypic andprogeny
on garden pea. Name these two ratios respectively. phenotypic ratios.
|Delhi 2016C|
Ans. 3:1is the phenotypicratio of amonohybrid cross. A0s. Snapdragon
I:2:1 is the genotypic ratio of amonohybrid cross. and (Antirhinum shows same genotypic
sp.)
phenotypic ratios for inheritance of flower colour.
 Principles of Inheritance and Variation 127

Namethe respective
pattern ofTinheritance, where
J6. F, phenotype d5. Ageneticist interested in studying variations and
resemble either of the two patterns of inheritance in living beings prefers to
does not parents and choose organisms for experiments with shorter life
(a) between the two:
is in cycle. Provide a reason. |Delhi 2015;
(6) resembles only one of the two parents. (AI 2012|
Ans. Anumber of (successive)generations can be raised in
Incomplete dominance.
(a) Complete dominance. a short time to study the patterms of inheritance.
Ans. (b)
46. Define linkage.
the technicalIterm used in human ABO blood Ans. Linkage is the phenomenon, where two or more
37. Write and i. Iinked genes are always inherited together and their
groups for I^, I" |Delbi2016C|
Ans. Multiple alleles. recombination frequency in a dihybrid test cross
progeny is less than 50%.
gene I that controls the ABO blood grouping
38. The 47. In a dihybrid cross carried out by T.H. Morgan
in human
beings, has three alleles, I^, IB and i.
in Drosophila, the F, ratio deviated from that of
(a) How many different genotypes are likely to be Mendel's dihybrid F, ratio. Give a reason.
present in the human population?
1AI2016C]
(b) Also, how many phenotypes are possibly Or
present? [CBSE Sample Paper 2016|
genotypes. Why do certain genes tend to be inherited together
Ans. (a) Six different in a cell at the time of cell division? |HOTSI
(6) Four phenotypes. Or
0 Write the codominant alleles in the ABO blood If the frequency of a parental form is higher than
group characteristic of humans. 25% in a dihybrid test eross., what does that indicate
alleles.
Ans. I^ and I" are codominant about the two genes involved? |HOTS|
40. How many kinds of phenotypes would you expect in Ans. The genes show linkage and do not segregate
the F, generation in a monohybrid cross, exhibiting independently of each other.
codominance? |Delhi 2014]
48. Morgan et al found that even on the same
Ans. Three kinds of phenotypes. chromosome, recombination between some gene
41. Multiple allelism can be investigated only in pairs was higher than that between some other gene
populations. Justify. |HOTS| pairs. Give reason for this observation.
Aus. Though a gene exists in more than two allelic forms Ans. It is due to the distance between the gene pairs; more
in multiple allelism, a person can have only two of the distance, higher willbe the recombination and vice
those alleles, as he has only two sets of homologous versa.

chromosomes; so, multiple allelism can be studied only 49. If two genes are located far apart from each other,
in a population. on a chromosome, how will the frequency of
42. How is pleiotropy exemplified in Drosophila? recombination get affected?
|CBSE Sample Paper 2017. 15|
Ans. In Drosophila white eye colour is associated with
depigmentation in many other parts of the body; it is Ans. - The two genes will segregate independently of each
other and there will be 50% recombination.
due to the pleiotropic effect of a single gene.
43. What is a dihybrid cross? 50. Mention any two traits present on the X-chromosome
Ans. A dihybrid cross is a cross made between individuals of Drosophila.
of a species, considering the inheritance of contrasting Ans. Eye colour, body colour, wing type. (any vo)
pairs of two traits. 51. Mention the contribution of genetic maps in human
+H. AaBb was crossed with aabb. What would be the genome project. (AI201I|
phenotypic ratio of the progeny? Mention the term Ans. The genetic maps were used as the starting point in
used to denote this kind of cross. the sequencing of whole genomes.
|CBSE Sample Paper 2010| 52. Do you think Mendel's laws of inheritance would
Ans. - The phenotypic ratio will be 1:1:1:1. have been different, if the characters he chose were
It is a test located on the same chromosome? Why? HOTS]
croSs.
128 uie Bdg
o4. In a certain group of insects,
some
chromosomes and sonme have 18 have
S8 Ghe an eampk of a pahgeai trait in humans
Write about the gender of theset
Males have 17 chromosomes.
Females have I8 chromosomes.
chromosome
two types ofi

6a How manv chromosomes do drones of

Wdo s t pohgenic inberitane for the frst
(n on)
posess? Name the type of cell division
the production of sperms by them.
hinvoolnveeydbein
t
Ans - Dones have l6 chromosomes.
Mitosis oxcurs during producton of spems
S Ghe e eumples of pohgenic inheritances from
phts 66. Amale honey bee has 16 chromosomes,
female has 32 chromosomes. Give one reason whereas ity
X in aheat
Sa Write the phenotypic ratio of the F, progeny of a Ans. The male honey bee develops parthenogenetically fo
crosx invoh ing polygenic trait coatrolled by three an unfertilised ovum (haploid with 16
eparatt gene chromosomes
whereas afemale honey bee develops from afeti
A i:6:15:20: 15 :6:1. egg (diploid with 32 chromosomes).
T Oa what basis is skin colour in bumans considered
67. Write the number of chromosomes, the body celk ot
poygenic? honey bee workers and drones have? |Delbi 2hi0:
Ans Ski colour in bumans is oontrolled by threæ different
Ans. - Worker honey bees have 32 chromosomes.
snihe phezotype is he cumulative efect of all - Drones have 16 chromosomes.
he dmit alleles hence its inheritance is considered
s poiygenic 68. Identify the correct statement :
58 Wbo first observed the chromosome? Wbat was (a) Female of many birds has a pair of dissimiar
it alled then? ZW chromosomes, while the males poSsess a
Ans. Henking firs ooserved the Xchromosome. pair of similar ZZ chromosomes.
It ws called X-bodv. (6) Female of many birds has a pair of similar ZZ
59. What are autosomes? chromosomes, while the males possess a pair of
Ans. All those chrormosomes of en individual organism that dissimilar ZW chromosomes. JAI2014|
2re not involved in the determination of sex of that Ans. (a) is the correct statement.
individual. are called autosomes.
Female of many birds has a pair of dissimilar ZW
69. Whyis Xchromosome called sex chromosome?
chromosomes, while the males possess a pair of
Ass Since Xchromosome is involved in the determination similar ZZ chromosomes.
of sex of zn individual, it is called sex chromosome.
69. Give an example of an organism exhibiting
61. Give an example where (a) males are XO and female
(6) females are ZW. heterogamety. |AL 2016C|
Ans. Female fowl (with ZW sex
Ans. (a) Grasshopper chromosomes).
70. Mention the combinations of sex
(b) Fowls.
a male and a female bird.
chromosomes in
62. The ezg of an animal contains 10 chromosomes, of |Foreign 20171
whích one is X-chromosome. How many autosomes Or
would there be, in the karyotype of this anímal? Write the chromosomal basis of sex
HOTS) in birds, determination
|AL2016C
Ans. 1% autosones. Ans. Thc birds show ZZ.and ZW
type of sex
63. Give an example of an organism that exhibits
The male has ZZ sex determination.
Thefemale has ZW sexchromosomes.
haplodiploid sex determination system. (AI 2016
Ans. Honeybee. chromosomes.
 Variation 129
Principles of Inheritance and
diseases can be avoided in the
Identify and
write the correct statement: 80. Which of the following
of the parents?
Drosophila male has one X and one Y progeny by analysing the pedigree Tuberculosis.
Turner's syndrome,Colour blindness.
(a)
chromosome.

Drosophila male has two X-chromosome. Ans. Colour blindness.

(6) answer the following
|A 2014C| S1. Observe the pedigree chart and
questions:
Drosophila male has one Xand one Ychromosome.
As. (a)
72.
Identify and write the correct statement:
(a) In grasshopper males, two sex chromosomes
are X and Y types.
males, there exists XO type of
In grasshopper
(6) sex determination. |AI 2014C|
males, there exists XO type of sex
Ans. (6) In grasshopper
determination.
each of the (CBSE Sample Paper 2016]
Give an example of following cases,
sex-linked or
where (a) Identify whether the trait is
responsible and autosomal.
(a) the sperm is
determination. human beings
(6) the ovum is responsible, for sex (b) Give an example ofa disease in
inheritance.
In humans/Drosophila, sperm is responsible. which shows such a pattern of
Ans.
In certain birds, vum is responsible. Ans. (a) The trait is sex-linked.
74. Define mutation. (6) Colour blindness/Haemophilia.
autosomal
ns Mutation is defined as the sudden heritable
change in 82. Name an autosomal dominant and one
the base sequences of DNA or structure of chromosomes recessive Mendelian disorders in humans. \ 20101
or number of chromosomes. Ans. - Autosomal dominant Brachydactyly
75. Mention any one major source of variation
in : Autosomal recessive Phenylketonuria, sickle-cell
(am one)
(a) asexually reproduced offspring.
anaemia

(6) an asexually reproduced individual. 83. Why do normal red blood cells become elongated
Ans. (a) Recombination. sickle-shaped structure in a person suffering from
sickle-cell anaemia? itoreign 2014|
(b) Mutation.
Ans. The defective haemoglobin (the amino acid glutamic
76. In which type of cells are chromosomal aberrations
commonly found? acid at the sixth position of B-globin is replaced by
valine) undergoes polymerization under low oxygen
Ans. Cancer cells. tension; hence, the RBCs become elongated and sickle
77. What is point mutation? Give one example. shaped.
|Foreign 2016|
84. Write the genotypes of :
Ans. Point mutation is the mutation arising due to change (a) an individual who is a carrier of sickle-cell
in a single base pair of DNA, e.g. sickle-cell anaemia. anaemia gene, but apparently unaffected, and
78. Mention two causes of frameshift mutations. (b) an individual affected with the disease.
|Foreign 2016| |AI2010|
Ans. Deletion or insertion of base pair(s) of DNA causes Ans. (a) Hb^ Hb
frameshift mutation. (b) Hb Hb
79. What is a Mutagen? Name a physical factor that 85. Name the metabolism or enzyme that is impaired
can be a mutagen. |Foreign 2016|
in phynylketonuria.
Ans. Mutagens are those physical/chemical factors, which Ans. Phenylalanine hydroxylase is impaired; hence
induce mutations, i.e., change in the genetic material, phenylalanine cannot be converted into tyrosine.
C.g. UV rays.
 130 yeá o Biology-12
98. Defne aneuploidy.
h Why ar the products of phenylalanine catabolism Ans. Ancuploidy is the phenomenon offgain orlos5
eIcreted in the urine of phenyIketonuria patients?
more chromosome(s) that resultss due to
Anx The aborpton of these products by the kidncys is very
poor
Name one se1-linked and one autosomal blood
Le. failure of the members of
the
non-disjunclin
homologous pairs
chromosomes to separate during anaphase |of meios, of
99. Name the stage of cell divislon, where
related Mendelian disorders in humans.
Sex-linked: Hacmophilia.
Autosomal:Thalassemia, sickle-ccll anacmia.
of an independent pair of segregatlon
chromosomes occurs,
|AI 214
Give an example of a human disorder that is caused Ans. Anaphase I of meiosis.
100. Namethe phenomenon that occurs when
duc to a single gene mutation. |Dbi 2016|
pair(s) of chromosomes do(es) not homologou
separate
I Sickle-cellanaemia phenylketonuriacolour blindness!
haemophla
meiosis. durlng
Ans. Non-disjunction is the phenomenon; it
S9 Ahacmophilic son was born to normal parents. Give
the genotypes of the parents. |HOTSI aneuploidy.
leads to
An Father :XY; Mother : XX*. 101. Glve an example of achromosomal disorder ca..
99, Ageneticisorderistransferred from aphenotypically due to non-disjunction of autosomes.
normal, but a carrier female to some of her sons. ICBSE Sample P'aper 20161
What is the nature of the disease? Ans. Down's syndrome.
Ans. It is a sex-linked (X-linked) disorder. 102. Which of the following diseases can be diagnosed
91. Write the clinical symptoms of by analysing the karyotype?
haemophilliz.
Ans In haemophilia, a protein ínvolved in the clotting of Haemophilia, Turner's syndrome, Phenylketonuria.
blood is affected: hence, an affected individual suffers
Ans. Turmer's syndrome.
from non-stop blecding even with a minor cut.
"2. Name one such traít each. in humans and Drosophila,
103. Ahuman being suffering from Down's syndrome
shows trisomy of 21" chromosome. Mention the
whose genes are present on Xchromosome. cause of this chromosomal abnormality. |AT 2010)
Ans. - Humans : colour-blindness, haemophilia.
- Drosophila : Eye colour, body colour. Write the cause of Down's syndrome in humans,
93. Give an example of a ser-linked recessive disorder
in humans.
|AI 2010C
|Delhi 2016C| Ans. It is due to non-disjunction (non-separation) of the
Ans. Haemophilia, colourblindness. (any one) 21" chromosomes during ova formation and the
94. A colourblind boy ís born to a couple with normal fertilisation of an ovum with two 21" chromosomes
colour vision. Write the genotypes of the parents. by a normal sperm; there is an additional copy of the
|AI 2017CI 21" chromosome in such individuals.
Ans. Genotype of father - XY 104. Write the sex of a human having XXY sex
Genotype of mother - XX chromosomes along with 22 pairs of autosomes.
95. The son of a haemophilic man may not get this Name the disorder this human suffers
from.
genetic disorder. Mention one reason. (Delhi 2010C (CBSE 2018C|
Ans. The defective allele (for haemophilia) is present on the Ans. - The individual will be a male.
Xchromosome, which the son does not get from his He suffers from
father. 105. State the
Klinefelter's syndrome.
chromosomal defect in individuals with
96. What is meant by chromosomal mutation? Turner's syndrome. |Dellhi 2015C|
Ans. Achange in the structure and/or number of chronmosomes Ans, The individual has only one
in an organism, is called chromosomal mutation. monosomy of sex chromosome. X-chromosome, i.e.
97. Name the event during cell division cycle that results 106. Write the
inthe gain or loss of chromosomes. |Delbi 201I| chromosomal defect in
with Klinefelter's syndrome. individual affected
Ans. Failure of Separation of homologous pairs of Ans. They have one exlra
chromosomes during anaphase I of meiosis. X-chromosome, 44+XXY.
i.e.
 131
Principles of Inheritance and Variation
disorder caused due to the absence of one
J07. Namethe Ans. The cross is as follows:
X-chromosomes in a human female. Yellow
Parcnt. Green
ofthe
|Delhi 207| pods pods
A0s. Tumer'ssyndrome
GG 22

Answer Type [] Questions [2 Marks] (Ganete

Short
Inheritanceis particulate in nature. Justify. |HOTS)
J08. Gg (Green pods)
Thecharacters are controlled by 'factors' which are
Ans. - Selfing Gg Gg
stably passed down without any change from the
parcnts to the offspring, through the gametes. Gametes G)
The alleles
do not show any blending. Fgeneratron :
-
crosS between two tall pea plants, some of the GG Gg
109. In a were dwarf..Show with the help G
offspring produced Green Pods Green Pods
is possible.
of a Punnett square, how this Gg
|Dellhi 2013: HOTSJ Green Pods Yellow Pods
Or
one 50% of the progeny are heterozygous.
When a tall pea plant was selfed, it produced
fourth of its progeny as dwarf. Explain with the 111. Tallness in pea plant is a dominant trait, while
|Delhi 2010; HOTS| dwarfness is the alternate recessive trait. When a
help of a cross.
pureline tall is erossed with a pureline dwarf, what
.. Since dwarfness (recessive trait) has appeared in the
fraction of tall plants in F, shall be beterozygous?
progeny, the tall pea plant must be heterozygous for Give reasons. |Delhi 2011C|
tallness, i.e. its genotype is Tt
Ans. Parents Pure Pure
Tall Tall
Sclfing tall dwarf
Tt Tt
TT t

Gamctes
Gametes
Progeny T .t
F generation Tt-Tall
TT Tt
Tt
T
Tall Tall Selfing Tt

Gametes
Tt tt
t
Tall Dwarf F, generation
The phenotypic ratio is 3 tall :1dwarf. TT Tt

Tall Tall
- Since tallness is dominant over dwarfness, the
homozygotes (TT) as well as the heterozygotes Tt tt

(Tt) are tall. Tall Dwarf

The recessive trait is expressed only under Phenotypic ratio : 3 Tall : 1 Dwarf
homozygous condition (tt) and hence, appears only
Genotypic ratio : 1 TT:2 Tt:1tt
in one-fourth of the progeny.
- Two-thirds of the tall progeny is heterozygous.
I10. With the help of aPunnett Square, find the percentage - It is because the gene for tallness (T) is dominant
of heterozygous individuals in a F, population of a and expresses itself in the heterozygous condition,
cross involving a true-breeding pea plant with green Tt.
pods and atrue-breeding pea plant with yellow pods,
respectively. |Foreign 20131
 132 Bing-1
The cross iS 2s folloas:
I h i a ntydrid cress the F, popalstion
rSiten s3:1 fer pheutR beterpressed Pzres Tall

sl:l:1 for getyp Erplin wit the help of (Tt) Dwzrf

(1)

T
seied seied Tt
(55)
Tall Dwarf
(
The phenotypic and genotypic ratios are
Ss (5aoch-seiedy
Tall (Tt) : Dwarf (t)
Ss 1 :

(b) It is a monohybrid test cross.

I15. How does a test eross belp to determine the genoty
of an individual?
|Foreign 2014
SS S Or
Smoot Smoot Wben does a geneticist need to carry out a tey
seeed seeded cross? How is it carried? |Foreizn 2915|
Ss Ans. - Atest cross needs to be conducted to determíne the
sSaoot-sceded Wrinkled genotype of an individual for any given trait.
seeded In a test cross, the individual with a dominant
The phestypic rio of soott-sceded to wrinkled phenotype, but unknown genotype, is crossed with
an individual with the recessive trait.
seeied plzts is 3:1.
- If the individual is homozygous dominant, all the
From the Purnet square, it can tbe seen that one
of the soot seeiei plznts is tormozygous (SS). individuals in the progeny will be dominant.
If the individual is heterozygous, dominant, 50%
ethe ohe two zre heeOLYZOUs (Ss) znd the
of the progeny will be dominant and 50% of them
Tinkledseeded plznt is homoryzous recessive, will be recessive.
hece, te geotypic rztio is 1:2:1.
116. In snapdragon, a cross between true-breeding
113. Give the Mendeliao monobybrid ratio. How is red-Howered (RR)plants and true-breeding white
it mathematically condensable to the binomial Howered (rr) plants, showed a progeny of plants,
expresion? all with pink flowers.
Ams. - Mendelizn phenotypic ratio of 2monohybrid cross (a) The appearance of pink flowers is not known
is 3:1nd the genotypic ratio is 1 :2: 1. as blending Why?
- It can be methemetically condensed as (ur+ byY. (b) What is this phenomenon
known as?
114. Aeros ws carried out between two plants showing |AT2014|
the contrastíng traits of beight of the plznt. The result Ans. (a) The appearance of pink-flowers is not known as
of the cros showed 50% of parental characters, blending because both the parental traits appcar
in the F, generation, without any
(a) Work out the cross with the help of a Punnet change, which
is not possible in case of
blending.
square. (b) The phenomenon is incmplete
(b) Name the types of the cross carried out.
dominance.
117. Explain codominance with the help of one
|Delhi 2014| example.
(Foreign 2017|
Ans. (aj Since both the parental traits, tall and dwarf plants,
Or
ABO blood group is a good example of
have appcared in the progeny, the tall plant must Justify. codominance.
be heterZygous for tallness. JAI2017C
Ans. Refer toans. 5.13(a)
 Principles of Inheritance and Variation 133

characters show true dominance. What Pheryliketrnuria is 2 euple of pleiotropy ts

Not all
18 two otber possible types of dominance? due to mutztion of a zene that codes for the eye
are the
example ofeach. (HOTS pheny lalanine trydroxylase.
Give an
possible types of dominance 2re:
The other Ihe phenotypic expressions of this disorder 2re
(n Incomplete dominance mental retzrdation dreduction in skin dair
Flower colour in snapdragon. pigmentztion
(i) Codominance. T21. Grve an erample of a gene responsible for muitiple
AB. phenotypic erpressions What are such genes called?
eg. Blood group State the cause that is responsible for such an
Explain pleiotropy with an example. effect. (Fareign 2015
119. |Foreign 2014) Ans. - The gene controlling the shape of seed 25 ell 2s
Pleiotropy is the phenomenon in which a single the size of starch grains in garden pea plants shoas
more than one or multiple effect or
geneproduces multiple phenotypic expressions.
control several phenotypes. - Such genes are called pleiotropic genes.
It is due to the inter-relationship between the - It is due to the iter-relationship betw een dif+erent
metabolic pathways. metabolic pathwayS.

121. Dififerentiate between multiple allelism and pleiotropy with the help of an erample of each. Delhi 2013C;

Multiple allelism Pleiotropy

Ans.
- Jt is the phenomenon in which a gene for a trait It is the phenomenon of the ability of a single gene to
exísts in more than two allelic forms. have more than one phenotypic effect
The alleles can show codominance. Codominance is not exhibited

eg. the gene for human blood groups exists in three e.g. a single gene in garden pea controls seed shape
allelic forms, I^, 1B and i. and size of starch grains.

123. Name the scientists who rediscovered Mendel's

122. A pea plant homozygous for axial flowers and
constricted pods, is crossed with the pea plant results? Mention the year in which they did it?
homozygous for terminal fiowers having inflated Ans. Correns, de Vries and Tschermak rediscovered Mendel's
pods. Work out the cross upto F, generation. Show result.
the genotypes of the parents and the phenotype and In the year 1900.
genotype of the progeny. |Foreign 2013|
124. Why did Morganselect Drosophila melanogaster to
Ans. Since parents are homozygous, their genotypes are: study sex-linked genes for his lab experiments?
Axial-Aowered, constricted pods-AAii |Foreign 2015|
Terminal-fAowered, inflated pods-aall Ans. Reasons for selecting Drosophila:
The cross is as follows:
() There is clear differentiation of the sexes, Le.. the
Parents Axial Terminal
male and female flies are casily distinguishable.
flowers, flowers, (ii) lt has many types of hereditary variations that
constricted inflated are easily observable.
pods pods (iii) The fly completes its life cycle in about two
(AAii) (aall) weeks; hence, a number of generations can be

Gametes al) raised to study the inheritance pattern of a given

trait.
F generation : Aali-(Axial flowers, inflated pods) (iv) A single mating produces a large number of
The phenotype of the F, progeny-Axial flowers and progeny flies.
inflated pods
Ine genotype of the F, progeny-Aali
 134 Taecke n Biology-12

123 lna dibhybrid cross, white-cyed, yelow-bodied female parental combination is in

greater
Drasephila cerossed with ed-eyed, brown-bodied
male Dresophila produced in F, generation, 1.3
that of recombinants.
The genes Mendel studied did not
proportion h
per cent eombinants and 98.7 per cent progeny
126. Explain two situations when shhow linkage
with parental type combinations. This observation
of Morgan deviated from Mendelian F, phenotypic independent:as ortme
of genes occurs resulting in S0%
dibybrid aio. Explain giving reasons, Morgan's
obserations. |Eoreign 201|
Ans. () The genes must be
chromosomes.
(in) If present on the same
situatedrecombinadtifioerner
on
Ans. It is due to the phenomenon of linkage.
Linkage is defined as the phenomenon in which two
chromosome,
should be as far as possible and
crossing over between them.
the gene
always allow fe
ar more linked genes are inherited together and their
127. Who was the first to map
irequensy of ecombination in a test cross progeny
is less hsn the expected 50 per
cent
formed the basis for it?
Ans. - Sturtevant was the first to map
chromosomes? Wha
In this cas he genes for eve colour and
body colour He used the frequency of
chromosomes
show linkage and do not recombination betWer
of each other during gametesegregate indepedenly gene pairs on the same chromosome as a
formation: hence, the of the distance between genes. measure
128. Sady the figures given below and
answer the question.
Cross A
Cross B

w m*

(Parental)
m
Yelow. white Wid type White, miniature Wiid type
ldentify in which of the crosses the
vOr 2nswer.
strength of linkage between the genes is higher. Give
reasons in support of
Ans. - The strengh of linkzge is |Foreign 20141
higher in cross A
- The two 2enes 2re
cioser to each other than those in cross B;
closer the genes, higher is the
129. Linkage and crossing over of geoes
are alternatives
strength of linkage.
of each other. Justify with the help Ans. The characteristics of such an
of an example.
() The character is inheritance are:
ADs - Linkzge refers to the physical
|A1 2014)
gene, i.e., controlled by more than one
polygenic.
2ssociation two
of
or more 2enes present on 2
chromosome that are (i) The expression of a trait is
alwzys inherited together. the number of alleles the manífestation of
Crossing over refers to the exchange of equivzlent a quantitative ínheritance.contributing
to it, i.e., it is5
segments between non-sister chromatids of (üi) There are only a few
homiogos cheonosmes,leading to recombinztion parental traits,. individuals that show the
of getes (iv) The f hybrid is
- If te linkege is stronger, the frequency of
crossing parents. intermediate between the two
Wead henoe. rembiration is less and vice versa. 131. Write the type of
- In aoy case, wten the phenomernon of linkage is the following crossessex determínation mechanisms,
preset, the recombinztion frequency of the two type. show. Give an example of
(u) Pemale XX
each
gees involved is less than the expcted S% in a
and
(b) Pemale 72W male XO,
ditrytrid tes cISS progeny and nale ZL.
1340. Whes the relative frequescy of the different ABb. (u)
phenutypes of a cross is plotted graphically, a
X04ype of ex
deterninatúon heteroyamety)
ey. Grasshpper (male
|Delli 2014|

bell-shaped curve results. Mention any four (b)

ZW-type of sex
characteristics of such a pattern of interitance.
heerarety), ey. Hen.delermination (Female
 Variation 135
Principles of Inheritance and
iDelhi 20 151
pifferentiate between male heterogamety and female heterogamety.
132. Male heterogamety Female heterozamety
produces two
Ans.
It is the
phenomenon in which the male produces Itis the pheniomenon in which the female
sex-chromosomes.
types of sperms,
with reference to the sex- types of ova, with reference to the
two
chromosomes.
determined by the type
The sex of the offspring is determined by the type of The sex of the offspring is
ovum. of ovum that is fertilised.
sperm fertilising the Delthi 2015j
Differentiate between "ZZ' and XY'type of sex-determination mechanisms.
133. "ZZ' mechanism XY' mechanism

homogametic and males

Ans.
The females are ZW, i.e., heterogametic
and males The females are XX. Le..
are XY". ie., heterogametic.
are 'ZZ', i.e., homogametic. determined by the type
The sex of the oftspring is deternined by the type of The sex of the offspring is
ovum that is
fertilised. of sperm fertilising the ovum.
birds. It is seen in humans.
It is seen in
disorders.
Differentiate between Mendelian disorders and chromosomal
134.
Ans. DifTerences:
Chromosomal disorders
Mendelian disorders
absence
mutation Chromosomal disorders are those caused due to
Mendelian disorders are due to alteration or one or more chromosome(s) or
or excess presence of
in a single gene. abnormal arrangement of one more
chromosome(s).
affected individual is
way They are not transmitted as the
They are transmitted to the progeny in the sarne
inheritance. sterile.
as Mendelian principles of
traced in a farnily The disease can be confirmed by karyotyping e.g
The pattern of inheritance can be Down's syndrome, Turner's syndrome.
Phenylketonuria,
tree by pedigree analysis, e.g.
Colourblindness.
have no
When the mother is normal, the sons
example.
135. What are mutagens? Give an chance of getting the disease, even if
the father
chemical factors, which
Ans. Mutagens are those physical or is haemophilic, because father passes on the
sequences,
cause mutations, i.e. alteration of DNA Y-chromosome to his sons.
UV -
structure or number of chromosomes, e.g. baemoglobin of a
radiation, X-rays, colchicine, etc. 138. A relevant portion of B-chain of
normal human is given below:
Mendelian
136. Name any four autosome-linked recessive
disorders. (Val {His-Leu (ThrPro-Glu Glu)
5 6 7
thalassemia, 3 4
Ans. Phenylketonuria, sickle-cell anaemia,
2
amino acid is GAG. The
cystic fibrosis. The codon for the sixth
GAA as a result of
sixth codon GAG mutates to
137. Why does the son of acarrier mother and a normal mutation 'B.
mutation'A' and to GUG as a result of
Tather suffer from haemophilia, whereas the son of result of
would Haemoglobin structure did not change as a
a haemophilic father and a normal mother changed
not? Explain.
|iOTS! mutation'A", whereas haemoglobin structure
sickle-shaped
the because of mutation 'B, leading to
Ans.
The gene for haemophilia is present in RBCs. Explain giving reasons how could
mutation
X-chromosome. or bring
mother, 'B' change the haemoglobin structure
Ihe son receives the X-chromosome from his down mutation and not
mutation 'A'.
disease to 50% |AL 201I: HOTS
SO, a carrier-mother passes on the
of her sons.
 pies of mheace zrd voon 137
Drtiate bete Dosz'ssndrsae znd Turaer ssrme
Doma's Syndrume
Terner's Spndrume
trisoy of 21 crmsome
lsori
feale
s2 2e or 2
The icromosces in he tbody is 47

Short Answer
Type[] Questions [3 Moriks)
sDooth seed coat is dmaast yner piant witç wie BomeTs grudscing 59 plasts i
In gardes pez
wrinkled seed coat. W
Shat wil be the expected rzi perpk Bomer Os setg ese piaats produced
of tbe sffspring in a crAs betwen
of pbesoypes iowers Wbat 2eei nectaaS CoEats Sortse
HeteruzgosSDOoth and Heseruzygomss t h
(a) resshs? Erplaia
POS SsMouh and HooZVgIS WTÍnked
(b) HeteLy Ans. Sce l he pzts hef. graion zv2 ppie
ià Heteruzygogs smooth and HomzyzORS SMOUh
CBSE Sample Paper 2010
These plts re beuzy2OS odaced epre
AR la) Heerozygous Heterozygoss breng hoOZY gosprpe-5oed pas P?)
StIooth-seeded Smooth-seeded z0d homozy 2oS =e-Soaeed (p) pe pas.
Ss
Ss Purple
fowered ioad
PP
Progeny : SS. Ss. Ss, ss
3 smootb-seeded : 1l wrinkledseeded
(b) HeterOZygous Homotygous Pp
Smooth-seeded wrinkled-seeded (pupie-foaered)
Ss S5 Purple Purple
Generatn : foaered Bowered
Pp Pp
Progeny: Ss and ss
Gaoete
Ismooth-seeded : I wrinkled-sceded
P
(c) Heterozygous Homozygous
PP Pp
smooth-seeded smooth-seeded
P Purple Purple
Ss SS fowered fowered

S Pp PP
Purple White
Progeny: SS, Ss fowered
flowered
All are smooth-seeded.
Purple-flowered: White-fowered are in the ratio
147. Write the three basic facts that are highlighted in of 3(482): 1(162).
Mendel's Law of Dominance. |Delhi 2017|
- It is due to segregation of he factors that remained
Ans. The three basic facts are as follows:
together in the hybrid.
() Characters are controlled by discrete units, called - The factors segregate from each other during
factors. gamete formation and a gamete receives only one
(i) The factors occur in pairs. of the two factors; a homozygous parent produces
(ii) In a dissimilar pair of factors (heterozygous). all gametes that are similar, while a heterozygous
one member of the pair dominates (dominant) parent produces two kinds of gametes, each having
and the other is recessive. one allele in equal proportions.
138 arie a Biolog-12

149, Explain the laws that Mendel derived from his Ans. Parents Red
monohybrid erosses. |Delhi 2016C flowered White
\ns Law of dominance and law of segregation are the two (RR) lower(m)ed
laws, Mendel derived from his monohybrid crosses. Gamctes R

() Law of dominance explains that in adissimilar Fgeneration Rr

pair of factors of a trait, one of them expresses
itself (dominant) and the other remains hidden Selfi:pollination : Rr
(Pink-flowered)
Rr
(recesive). Gamctes
- It also eplains the expression of both the traits F, generation R
in the F, progeny, in a ratio of 3: 1. RR
R Rr
() Law of segregation states that the members of an Red-flowered
allelic pair that remained together in the parent
r
Rr Pink-flowered
hybrid, segregate during gamete formation and Pink-flowered
enter different gametes - The F, White-flowered
individuals are pink-flowered which i
- Ahomozygous parent produces all gametes case of incomplete dominance; it is a phenomenon
that are similar while the heterozygous one in which neither of the two
alleles of a gene is
produces two kinds of gametes, cach having completely dominant over the other and the F
one allele for a trait hybrid is intermediate between the two parents.
150. What is a test cross? How can it decipher the The alleles of the hybrid segregate during gamete
heterozygosity of a plant? formation and the parental characters reappear
|AL 2016| without any change in F, generation; hence, the
Ans. Refer to ans. 5.5
phenotypic and genotypic ratios of the F, are the
151. Human blood group is a good example of multiple same, i.e.
allelism 2nd codominance. Justify. |Foreign 2016| Red Pink White
Ans. Meltiple allelism: fAlowered flowered flowered
RR Rr
Multiple allelism is the phenomenon in which a
gene exists in more than two allelic forms. 2 1
153. Although Mendel published his work on
The gene for human blood group I, exists in three inheritance
of characters in 1865, for several
allelic forms, I^, I and i. reasons, it remained
The alleles I^ and I are dominant over the allele i.
unrecognised till 1900. Explain giving three reasons,
why it did take so long. |Delhi 2016C)
- The allele 1 codes for glycoproteen Aand 1 for Or
glycoprotein B, while i does not code for any. Mendel published his work on inheritance of
Codominance: characters in 1865, but it remained unrecognised till
1900. Give three reasons for the delay in
- Codonminance is the condition in which two alleles of his work. accepting
Ans. Mendel's work remained |Delhi 2014
agene are equally dominant and express themselves
when they are together in a heterozygous condition. reasons:
unrecognised for the following
The alleles 1 and B express themselves the (0) His work could not be
widely publicised as
genotype IM and both glycoproteins, Aand B communication was not easy.
(i) His concept of"factors' as
produced; hence, the blood group is AB. stable and
that controlled the expression of discrete units
152. Work out a cross between true-breeding red and the pair of alleles which did not traits and that
blend with each
white-flowered dog-f1ower plants (snapdragon) other, were not accepted by his
upto F, progeny. Explain the results of F, and F, as the explanation of contemporaries
generations. (Foreign 2010| (ii)) Mendel's approach ofvariation.
using
explain the biological mathematical logic
and unacceptable to many phenomena was new
biologists.
 Prnnciples of Ioheritance and Variation 139
Mendel's work suggested that factors
(i) Thhough
were discrete units. he could not provide any I20. In pea plants, the colour of the Mower is either
Violet or white, whereas human skin colour shows
for
physical proof the existence of factors many gradations. Explain giving reasons, how it is
prove whatthey are made of. possible.
three ways the chromosomal theory
Compareinany
inheritance as proposed by Sutton and Boveri; Ans, In pea plants.
154.
experimental results on pea plant The flower colour is controlled by a single gene and
with thatbyofMendel,
presented |Delhi 2019) it exists in two allelic fons, V and v.
The chromosomes
as well as the genes occur in The allele for violet colour (V) is dominant over the
() pairsindiploidlorganims; the two alleles of agene allele for white colour (v).
a located on homologous sites on homologous The dominant allele expresses itself in the
chromosomes. homozygous (VV) as well in the heterozygous
2 The chromosomes segregate at the time of (Vv) conditions; hence, the flowers are violet.
gamete formation and only one member of each In the absence of a dominant allele, the recessive
air is transmitted to the gamete; along with the alleles in the homozygous condition, express the
chromosomes, the genes als0 segregate during
oamete formation and only one of each pair white colour.
In humans:
enters a gamete.
(i) Each pair of homologous chromosomes segregate The skin colour is controlled by three genes (located
independently of each other; the alleles of agene in different loci), A, Band C, each having two allele.
segregate independently of thealleles of anyother The phenotype is the expression of the curmulative or
gene. additive ettect of all the dominant alleles, a person
J65, How would you hnd genotype of a tall pea plant has.
bearing white flowers? Explain with the help of a - Aperson with all six dominant alleles (AABBCC)
eross. Name the type of croSS you would use.
has the darkest skin while, the genotype aabbcc
|Delhi 2016)
produces the fairest/lightest skin and the genotype
Ans. The given plant must be crossed with a dwarf plant AaBbCc produces the intremediate colour.
bearing white flowers.
If the tall plant is homozygous, all the plants in the Thus, there is gradation in the skin colour, which
progeny will be tall (Cross 1). depends on the number of dominant alleles in the
genome.
If the tall plant is heterozygous, tall plants and dwarf
plants will be in equal proportion in the progeny I57. When Morgan conducted a dihybrid cross on
(Cross 2). Drosophila like Mendel did with pea plants, the F,
Cross I: Homozygous tall plant with white flowers ratios deviated significantly from that of Mendels F,
Parents Tall, white X Dwarf, white ratio. Write the explanation Morgan and his group
gave for the observations they obtained from their
TTvy ttvy
experiments. |Delhi 2017 C|
Gametes
Or
Progeny Ttvv (Tall, white) Morgan carried out several dihybrid crosses in
Cross 2 Heterozygous tall plant bearing white Drosophila and found F, ratios deviated very
flowers significantly from the expected Mendelian ratio.
Parents Tall, white X Dwarf, white
Explain his findings with the help of an example.
TTvv ttvy |Delhi 2014C|
Gametes: (tv)
During his studies on genes in Drosophila that
Progeny : Tv
were sex-linked, T.H. Morgan found F, population
Ttvy ttvv
phenotypie ratios deviated from the expected
t
Tall, Dwarf., 9:3:3:1. Explain the conclusion, he arrived at.
white white
|Delhi 201O|
It is a dihybrid test
cross.
136 agcckc atk Biology-12
In mutation B, the codon GAG i s
Ans, - In mutation A, the change in the codon GAG to
GAA does not change the amino acid coded, i.e.
changedthe to G
where GUG codes for valine, while
codon GAG codes for glutamic acid; onga
achange in the haemoglobin structurehence,
both GAG and GAA code for anmino acid glutamic
acid; hence, there is no change in the haemoglobin
to sickle-cell anaemia. and tither.
led
structure.

139. a-thalassemia is different from B-thalassemia. Justify.

Ans. a-Thalassemia B-Thalassemia
It is under the control of two genes HBA, and HbA, Itis controlled by asingle gene HBB on chromose
on chromosome 16. 11.
The synthesis of a chain is impaired. The synthesis of ß chain is impaired.
140. A haemopbilic father can never pass on the A female who is heterozygous (carrier) for te
gene for haemophilia to his son. Explain. disorder is normal, and passes on the disorder
|CBSE 2018C) 50% of her sons.
Ans. - Haemophilia is a sex-linked, recessive disorder in Parents Normal Carrier
humans.
father mother
The gene for haemophilia is present on the
X-chromosome. (XY) (XX)
A male receives his X-chromosome from the female Gametes
parent and Y-chromosome from his father; hence, a
Progeny
haemophilic father can never pass on the gene for
haemophilia to his son. X X
141. Is haemophilia in humans a sex-linked or an XX XX
X Normal Carrier (normal)
autosomal disorder? Workout a cross in support
female female
of your answer? |Al2016C)
Ans. - Haemophilia is a sex-linked recessive disorder. XY xy
Y Normal
The gene for haemophilia is present on the Haemophilic
male male
X-chromosome and the recessive defective allele
produces the disorder.
142. What happens when chromosomes fail to
segregate during cell division cycle? Explain your answer with a0
example.
Ans. - The failure of chromosomes to segregate during cell |AL 2017C
division cycle i.e., non-disjunction leads to aneuploidy, ie-.
loss or gain of chromosome(s).
Down's syndrome results due to trisomy of 2lst
during gamete (ova) formation.
chromosomes, i.e., due to non-disjunction of 2 st chromosomes
When such an ovum with two copies of 21st
chromOSOme is Tertilised by a normal sperm the zygote comes t0
possess three copies of 2lst chromosome (trisomy).
L3 What will be the consequence, f cytokinesiS does
hor tolow the telophase stage of cell division?
given to this phenomenon? What term is
Ans. - It leads to an increase in a whole set of chromosomes of the organism
- It is called polyploidy.
144. How is Down's syndrome different from Klinefelter's syndrome?
Ans. Down's Syndrome
- It is due to trisomy of 21 chromosome. - I is due to an
Klinefelter's syndrome
extra
- It is an autosomal disorder. It is a sex X-chromosome in a male.
The aflected individual can be a male or a female.
chromosomal disorder.
The affected individual is a
characters. male, with more feminine
 () ShurtevaN usd the frquency of
hue S nthe same
rchroemcosmobmineab
the genes and
ther tMn the chromosome
Antevd deterygous fenuale
maçpe
1 fruit-ty,
e-eyedDrepsoespmalha e
melanegaster is crussed with
Work out the peidle genotypes and
Comment on the
whitphenot
Mgan thetied this to lnkage, ie. plysial
bct
the prugen. C
of eve cobur in fruit-ay.
Parts Rat-eyed
Female
pat ernofwhiinthee-eryeditany
enhetei teher Male
He aise nd hat se genes were ght linhed
ddoed ven ko mehinatioa frequency.
Cuntes
we s ges we leh nked and showad
bgher recabination fqueny Progeny
inaross betwem yelu hieiand white-eved
iaie Drospn and abrow-hied and red-eed Red-eyed
male and inter-crosng their F, progery, Mongan Female
Red-eyed
Male
ed fond that the tao gene hd not segegte
ndependety of esch ocher. Red-eyed
15X (e) Explain inkage and recombination as put forth Female
White-eyed
Male
by TH Mlergan. based on his observations with Pattern of Inheritance:
Drosaphile melanogae TOSsing experiment.
(b) Write the basis on which Alfred Sturtevant
The gene for eye-colour in fruit fly (Drosophila) is
located on X-chromosome, i.e. sex-linked.
erplained gene mapping ¡Delbi 20191
- Red eye colour is dominant over white eye colour.
s (a) Mergan's experiment:
Afermale fruit fly has two X-chromosomes, and can
Morgan conducted dibybrid crosses in be heterozygous for red eye colour.
Drosopila to study the genes that were sex A male has only one X-chromosome and hence is
Lirked: but his results deviated from the results
pure for eye colour trait; there is no corresponding
of Mende.
allele on the Y-chromosome.
They observed that when two genes of a The male receives the X-chromosome from the
dihybrid cross were present on the same female parent and Y-chromosome from the male
chromosome, the proportion of parental parent.
combinations was much higher than that of A female receives the
Don-parental combinations. X-chromosome from the father
and another from the female parent.
Morgan coined the term linkage for the 160. Explain with the help of an example each, male
physical association of the genes present on
and female heterogamety mechanisms of sex
2 chromosome.
determination. |Delhi2017C)
The term recombination refers to the non
parental gene combinations.
Even on the same chromosome, some genes
() Why are grasshopper and Drosophila said to
show male heteroganmety? Explain.
are tightly iinked and showed very low
(ii) Explain female heterogamety with the
recombination while others are loosely linked
an example.
help of
and showed a higher recombination. |AL 2010|
Ans. (i) Male heterogamnety
Morgan found that genes for white eye and
miniature wings showed 37.2% recombination, Male heterogamety is the
whereas genes for yellow body and white eye which the males of aspecies phenomenon in
produce two types
of gametes with relerence to sex
showed only 1.3% recombination. chromosomes.
 Pnnciples of fnbentance and Varatson 141
produces two types of
A maale grasshopper The females have tao XchroosocsC
armctes with reference to sex
chromosomes,
of them with one X-chromosome and
other than the autsormes

Males produce rwo Npes of sperms. o

s0 of them with no X-chromosome hem wth one chromosome rd of
male Drasophila produces 50s of gametes them aith no X-chromosone
with one N-chromosome and S0% of them b a sperm carry in
with one Y-chromosome. Ova fertiitsed
X-chromosome develop rnto females *hrie
Since they produce two types of gametes with those fert1ltsed by a sperm. carry Ing o
reference to sex chromosomes, they are said
X-chromosome develop into males. hence.
Io show male heterogamety. the males have one chromosome less than that
(iü) Eemale heterogamety of females.

-
It is the phenomenon in which the females of T62. Expiain the mechaaism of sex-determinatioa in
nspecies produce two types of gametes with honeybees.
reference to sex-chromosomes. \as. Ser-determination in honey bees
It is seen in fowls, where a female has ZW The sex determination is as follows.
sex chromosomes and produces 50% of ova Haplodiploid sex-deternination is seen in honeybes
with one Z-chromosomes and 50% of them It is based on the number of sets of chromosomes
with one W-chromosome.
an individual receives.
The sex of the oftspring is determined by the Parcnts Female Male
type of ovum fertilised. (2n = 32) (n = l6)
the mechanism of sex-determination in
161. Explain
insects like Drosophila and grasshopper. Al 2010) Meiosis Mitosis
Drosophila:
ns (a) Sex determination in
In Drosophila, sex determination is of XY Ganetes 16 16 16
type, i.e., male heterogamety and both
males and females have the same number of
chromosomes, i.e. 4 pairs
Parthenogenesis Fertilisation
The males have three pairs of autosomes and
XY-chromosomes.
Prugery Male Female
The females have three pairs of autosomes (n = 16) (2n = 32)
and XX-chromosomes.
The males are heterogametic and produce two - When the ovum is fertilised by a male gamete, the
types of sperms, 50% of them carrying one zygote (2n= 32)develops into a female, i.e. a queen
or worker.
X-chromosome and the other 50% with one
Y-chromosome. When the ovum develops by parthenogenesis, i.e.
without fertilisation, a male individual, called drone
The females are homogametic and all ova is formed.
contain one X-chromoSome.
The male honeybee (drone) is haploid (with n = l6)
- The sex of the insect is determined by the
type of sperm fertilising the ovum; the ovum
and forms sperms by mitosis.
fertilised by the X-carrying sperm develops 163. Explain the mechanism of 'sex determination' in
birds. How does it differ from that of human beings?
into a female, while that fertilised by the
|CBSE 2018|
Y-carrying sperm develops into a male.
Ans. Determination of Sex in Birds:
(b) Sex deternination in Grasshopper:
- Birds have ZZ-ZW type of sex detemination.
Sex determination in grasshopper is of XO The females have ZW chromosomes and are
lype.
heterogametic. i.e. 50% of the ova possess
The males have one X-chronmosome other than Z-chromosome wvhile the other 50% possess
the autosomes.
W-chromosome with the autosomes.
142 Tatke m Biology--12

The males have ZZ chromosomes and are homogametic, ie. all the spernns carry one Z-chromosome,
the autosomes. each
Sex of the bird is determined at the time of fertilization by the type of ovum, that is tertilised.
- If the ovum carrying Z-chromosome is fetilised, a ZZ individual (male) results.
- If the ovum carying Wchromosome is fertilised, a ZW individual (female) resulis:
Parents Male Female
ZW
Gametes:
Progeny W
ZZ ZW
Male Female
Diflerences:
In birds In human beings
Birds have ZZ-ZW type of sex determination. Humans have XY-XX type of sex determination
- There is female heterogamety. There is male heterogamety.
- Sex of the individual is determined by the type of - Sex of the individual is determined by the type of
ovum that is fertilised. sperm fertilising the ovum.

l64. What is mutation? Explain with the help of an (a) Mention the blood group as well as the genotype
example, how a point mutation does affect the genetic of the offspring numbered 1 in generation II.
code. Name another type of mutation. |AI 2016C|
(6) Write the possible blood groups as well as their
Ans. - Mutation refers to the phenomenon of altermation
genotypes of the offspring numbered 2 and 3J in
in DNA sequences and consequently changes in the
genotype and phenotype of an organism. generation II. |Delhi 2010 C
- Point mutation refers to a change in a single base Ans. (a) Ofspring I may have blood group A(^) or blood
pair of DNA. group B(1)
Sickle-cel anaemia is due to a change in the sixth (b) Offspring 2may have blood groupA(1^) or blood
codon of the beta globin gene from GAG to GUG. group 0 (i)
- Consequently, the sixth amino acid, glutamic acid Ofispring3 may have:
in the beta globin chain is substituted by valine. - If offspring Iis of blood group A
The defective haemoglobin undergoes polymerisation
blood group A(may be I^1^ or Ii)
at low oxygen tension causing a change in the
shape of RBC from biconcave cell to sickle-shaped blood group O(ii), if father is heterozygous
for A
structure.
- Frameshift mutation is another type of mutation. If offspring I is of blood
group B
165. Study the following pedigree chart of a family, »blood group AB (/^)
starting with mother with AB blood group and blood group A(i)
father with O blood group.
blood group B(i), if father is
Goreratn for A heterozygous
AB
>blood group O(), if father is
for A heterozygous
2 3
 Principles of Inheritance and Variation 143

B l64. Study the given pedigree chart and answer the

|60. 2
questions that follow.
1

AB B A
A
B
5 6 7 8
3

A AB AB

10 11 12 13
9
pedigree chart given above, showing the (a) Is the trait recessive or domínant?
Studythe ofi
inheritance pattern blood groups in afamily and (6) Is the trait sex-linked or autosomal?
questions:
answer the following (C) Give the genotypes of the parents shown in
1 generation I and their third child shown in
(a) Give the possible genotypes of the individuals
generation II and the first grandchild shown
and 2. HOTSI
in generation I.
Which antigenor antigens will be present on the
(6) plasma membranes of the RBCss of individuals Ans. (a) It is a dominant trait.
5 and 9? (b) It is autosomal.
genotypes of the individuals 3 and 4. (c) Genotypes of parents in generation I:
(C) Give the |HOTS| Female aa; male Aa.
Genotype of third child in generation ll: Aa.
Individual | - jB; Genotype of first grandchild in generation III: Aa
Ans. (a) Individual 2 - 1i
169. Why is haemophilia rare in human females? Mention
(Onc of them at least is definitely heterozygous). a clinical symptom of the disease. | 2014C1
(b) Individual 5- Both glycoprotein Aand glycoprotein Or
B. Why are human females rarely haemophilic?
Individual 9 - No glycoprotein Explain. How do haemophilic patients suffer?
| I20131
1i
(c) Individual 3 - Ans. - The gene for haemophilia is present on the X
Individual 4 - 1^i
chromosome, i.e. sex-linked.
167. Study the given pedigree chart and answer the The disorder is due to a recessive mutant allele:
questions that follow. hence a female with XX sex chromosomes, must
be homozygous recessive to produce the disease.
She must receive one of the defective alleles from
her haemophilic father and the other X-chromosome
with the defective allele from her mother, who is
also haemophilic or at least a carrier (heterozygous
for the trait, XX*).
The cross is as follows.
P'arents Father Mother
(a) Is the trait recessive or dominant? (haemophilic) (Carrier)
(6) Is the trait 'sex-linked or autosomal? XY XX
(c) Give the genotypes of the parents shown in Gamctes :
generation Iand of their third and fourth child X xh
|HOTS)
Progeny:
In generation lI.
XXh xxh
Ans, (a) It is a recessive trait.
Carrier Hacmophilic
(6) It is an autosomal trait. Female Female
(c) Generation | ’ Aa and Aa. XY xhY
Generation || ’ Third child - aa. Normal Haemophilic
Male Male
Fourth child - Aa.
144 Taarlea a Biology-12
170, Across bebveen a normal couple resulted in a son (c) Who are likcly to sufer more
related to the genc represented from
thhe
who was haemophilic and a normal daughter. In
females or both males and the males,dehle
course of time, when the daughter was married to
a normal man, to their surprise, the grandson was why? females equally?
also haemophilic. Ans. (a) The representation indicates a normal
(a) Represent this cross in the form of a pedigree
chart. Give the genotype of the daughter and
is anomal peptide withglutamic acid
position of Beta globin chain. \humatanthe; HbA
ber husband. (b) The normal individual has biconave,
() Write the conclusion, you draw about the
inberitance pattern of this disease. |Delhi 2014|
RBCS, whereas, the victim has
shaped RBCs.
disc-lik
elongated-sickl.e
(c) Both males and females suffer equally, because
Ans (a) i
is an autosomal recessive disorder.
172. (a) Sickle-celled anaemia in humans is a
point mutation. Explain. result of
(b) Write the genotypes of both the parents who
have produced asickle-celled
anaemic|oDfelhispri201|ng,
Ans. (a) Mutation arising due to achange in asingle h
pair of DNA, is called point mutation.
The genotype of the daughter is XX and her The defect is caused by the single base
husband is XY.
substitution at the sixth codon of the beta chain
(b) - The gene for haemophilia is present on the of haemoglobin from GAG to GUG; this lead
X-chromosome, i.e. it is a sex-linked trait. to substitution of glutamic acid by valine.
The disorder is due to a recessive mutant allele. The mutant or defective haemoglobin molecule
- The female is an unaffected carrier and passes undergoes polymerisation under low oxygen
on the disease to some of her male offspring. tension causing sickle shaped RBCs.
- For a female to be haemophilic, the father (6) The parents must be Hb^Hb' and HbAHb
must be a haemophilic and mother must be 173. What is the cause of phenylketonuria? Explain the
haemophilic too or atleast a carrier. disorder.
171. Given below is the representation of amino acid Ans. Phenylketonuria is caused by a recessive mutant
composition of the relevant translated portion of allele on chromosome 12.
B-chain of baemoglobin, related to the shape of The affected individuals lack an enzyme,
human red blood cells. phenylalanine hydroxylase that catalyses the
...CTC.... conversion of the amino acid phenylalanine into
Gene tyrosine.
.GAG.... - As aresult, phenylalanine is metabolised into phenyl
pyruvate, phenyl acetate, etc.
mRNA..GAG... Accumulation of these chemicals in the brain results
in mental retardation.
Glu Gly These arc also excreted in the urine, as they are nl
absorbed by the kidney tubules.
HbA Peptide 174. Give an example of an
autosomal recessive trait in
(a) Is this representation indícating a normal humans. Explain its pattern of inheritance with the
human or a sufferer from certain related genetic help of a cross. |Delhi 2016|
Ans. - Sickle-cell anaemia,
disease 2Give reason ín support of your answer.
are phenylketonuria and
autosomal recessive traits in humans.thalassemia
(6) What difference would be noticed in the
phenotype of the normal and the sufferer related The discase is transmitted to the
both the parents are carrier of the offspring, when
to this gene?
are heterozygous. disease, i.e., they
 Principles of Inheritance and Variation 145

Sickle-cellanaemia, the heterozygous (Hb^Hb) Since a colourblind child is born to parents win
In
individuals arc apparently normal,, but are carriers
normal colour vision, the mother must be a carierl
onthe disorder to next generation.
and pass heterozygous with genotype XX.
The cross is
as follows: The cross is as follows:
Carrier Carrier
Parents Parents Normal, but
male female Normal
carrier mother
Hb^Hb Hb^H5 father

Gamctes :
Hb) (Hb' (HD) (H XY

Progeny
HbA Hb'
(iametes:
Hb^HHA Hb^H6
HbA Normal Progeny : X x°
Carrier
Hb^Hb' Hb°Hb XX XX
Hb Carrier X Normal Normal, but
sufferer
female carrier female
sufferers.
25% of the progeny can be X°Y
XY
of the twins born to parents having normal Colourblind
175. One colourblind, whereas the other Normal
colour vision, was male male
vision. Work out the cross. Give
hwin had normal possible.
two reasons how it is |Foreign 2017| - The male child who has received the X-chromosome
Or
with the defecting allele from the mother is
with normal vision bears a colourblind colourblind; he must be one of the twins.
Acouple
child. Work out a cross to show how it is possible
child. The other twin may be a girl, who is either
and mention the sex of the affected homozygous normal or a carrier or a male who has
|Delhi 2016] received the X chromosome without the defective
Ans.
The gene for colourblindness is present on the allele from the mother.
X-chromosome; it is a sex-linked recessive disorder.

6 Haemophilia and'sickle-cell anaemia are blood related Mendelian disorders. Yet, they differ in their pattern of
inheritance. Explain the difference.

Ans. Haemophilia Sickle-cell anaemia

It is a sex-linked disorder, i.e., the gene of haemophilia It is an autosomal disorder.
is present on X-chromosome.
More males, than females, are affected because a male It affects both males and females equally.
has only one X-chromosome while a female has two
X-chromosomes and has to be homozygous recessive
for the disease.
A carrier female transmits the disease to some of her When both the parents are carriers, the disease is
male offspring. transmitted to the offspring.
177. How is ancuploidy different from polyploidy? Mention their causes.
Ans. Polyploidy
Aneuploidy
It is the phenomenon of loss or gain of one or more - It is the presence of three or more sets of
chromosomes from any pair(s) of chromosomes in a chromosomes in an organism, called polyploid.
diploid cel/ organism, called aneuploid.
It arises due to failure of cytokineses following the
- It arises due to failure of segregation of members of
one/more pair(s) of homologous chromosomes. telophase stage of cell division.
e.g. Down's syndrome, Turner's sydrome, etc. It is found in many plants.
146 aka a Biolog-12
1 Differentiate betveen monosomy and trisomy. Give an example of each from human genetics

Monosomy Trisomy
Itis the condtion where adiploid individual lacks one - It is the condition where a diploid
member of any one pair of chromosomes. aditional copy of achronmosome. individual has an
- The individual has (2n - 1) number of chromosomes. - The individual| has (2n +1) number of
cg Turner's syndrome, Le. monosomy of
Xchromsome.
e.g Down's syndrome, i.e. trisomy of
21 chromosome. chromosomes
179. During a medical investigation, an infant was found I80. Namec the phenomenon that leads to
to possess an extra chromosome 21. Deseribe the
symptoms, the child is likely to develop later in the
XO» abnormalityin humans. How do
XO' abnormality suffer? Explain.
sithumans
uations lwiikthe
Turner's|Forsyndreignome,202is
ife |Delhi 20171 Ans. - X0 abnormality, also called
due to non-disjunction.
Explain how trisomy of 21" chromosome occurs in Non-disjunction is the phenomenon of failure t
humans List any four characteristic features in an segregation of the members of
individual suffering from it. |Forvign 202) of chromosomes at anaphase I of homologous Pairs
Or gamete fomation. meiosis during
Name the genetic disorder caused by trisomy of
Symptons:
21 chromosome in humans. Write the
diagnostic The individual has
features of the disorder. |Delbi 201IC)
characters.
underdeveloped feminine
As. Trisomy of 2I" chromosome occurs due to
non Ovaries are rudimentary.
dis_junction, ie. non-separation of the homologous pair
of21 chromosones at anaphase I of meiosis during ova - She is sterile.
formation and fertilisation of such an ovum with two I81. Name a disorder, give the karyotype and write the
21 chromosomes, with a normal
sperm; the disorder symptoms, which a human male suffers, as a result
is called Down's syndrome. of an additional X-chromosome.
Sy nptoms of Down's Syndrome:
|Foreign 201|
Ans. Klinefelter's syndrome
() Partially open mouth with furrowed tongue. - The individual has 22 pairs of autosomes and XXY
() Broad, flat face. sex chromosomes, i.e. 47 chromosomes.
(zi) Broad palm with characteristic palm crease.
Syimptoms:
(iv) Short-stature with small round head. - The individual is a male.
(v) Many small loops on finger tips. He shows development of feminine
(7) Congenital heart diseases. characters like
development of breasts.
(vzi) Retardation of physical. psychomotor and mental Body hair is sparse.
developments. (amy four) - The individual is sterile.
182. Identify 'a', b', c', 'd', e' and f in the table given below:

No. Characteristics of Sex

Syndrome Cause
affected individuals
1. Down's
Male/Female/Both
Trisomy of 21 'a' () b
(i)
2. XXY Overall masculine d
development
3 Turner's 45 with XO 'e' ()
(ii
|AL2014|
 Principles of Inheritance and Variation 147
tongue and partially open mouth.
a
()Furrowed
().Broad palm withcharacteristic palm crease.
(i) Law of segregation:
-The two factors of the trait (Y and y) that
and female. remained together in the hybrid, segregate
. - Both male
Klincfelterr's syndrome. during gametogenesis and enter different
'c' - gametes.
' ' - Male.
() Rudimentary ovaries. (c) The phenotypic ratio of adihybrid cross is 9:3 :
(i) Sterility. 3:1.
f - Female. 184. (a) Work out a cross upto F, generation between
two pure-bred pea plants, one bearing violet

Long
Answer Type Questions (5 Marks] flowers and the other white flowers.
Explain a monohybrid cross, taking seed coat (b) ) Name this type of cross.
I83. (a) colour as a trait in Pisum sativumn. Work out (i) State the different laws of Mendel that
generation.
the cross upto F, can be derived from such a cross.
thelaws of inheritance that can be derived SI 2012 C1
(6) State White
from such a cross. Ans. (a) Parents Violet
ia What is the phenotypic ratio in a dihybrid cross? flowers flowers
|AL 2012| VV VV

Monohybrid cross Gametes

As. (a)
In Pisun sativum, yellow seeds are dominant over
green seeds.
F, generatton : Vy-violet flowers
Across between a true-breeding yellow-seeded Vv
plant and a true-breeding green-seeded plant, is as Selting Vy
follows: Gumetes
Parents
Yellow Green F. generation : V
seeded seeded Vv
VV
YY V
Violet flowers
Violet flowers
Gametes
Vv VV
F, generation : Yy(yellow-seeded) Violet flowers White flowers
Selfing Yy X
Yy The phenotypic ratio of violet flowers : white
Gametes flowers is 3 : 1.
F, generation : Y (b) (i) It is a monohybrid cross.
YY Yy (i)) - Law of dominance states that
dominance is a phenomenon, in which
Yellow-seeded Yellow-seeded
one allele of a gene expresses itself and
Yy yy suppresses the expression of the other
Yellow-seeded Green-seeded allele of the same gene, when they are
present together in a hybrid.
The F, phenotypic ratio is Law of segregation states that the
3yellow-seeded : 1 green-seeded two factors of a trait that remained
The F, genotypic ratio is together in the hybrid segregate during
I YY:2 Yy: l yy gametogenesis and enter different
(b) Mendel's laws from the above cross. gametes.
() Law of dominance: I85. State and explain with the help of a cross, the law
When individuals differing in a pair of of segregation as proposed by Mendel. |AL 2012 CT
contrasting characters are crossed, the Ans. Law of Segregation:
character that appears in the F, hybrid, is Law of segregation states that the members of the
dominant (yellow seed coat colour) over allelic pair that remained together in the parent/
the alternate form of the trait that remains hybrid, segregate during gamete formation and enter
hidden (green seed coat colour) or recessive. different gametes.
 Baokogy-12

As a rsal gametes have only one allkele for a trait (i) Heterorvgous Red
and are pue fra chart Parents : Red
Tall Dwarf flowered Whitc
plant plant
Gametes : (R)()
RI
lowered
Camets
-
Progeny :
Tt Rr
Tt T Red
flowered White
Red lowered: White flowered, 1:1 fowered
T Tt Snapdragon
Tall Tall - In snapdragon, when a red-flowered
Tt crossed to a white-floweredI , plant i
plant, the
Tal]) Dwarf
- The phenotypic ratio is 3tall plants : 1dwarf plant.
would consist of pink-fowered
- So, red-flowered plants are
plants. progeny
The genotypic ratio is 1TT:2Tt:Iu
- In this case. tallness is dominant and
dwarfness is
dominant, while heterozygous condition
produces pink-flowered plants.
homozygous
recessrve. The cross is as follows:
- The F, bybrid is tall (dominant character). Parents Red
- The recessive character. White
dwarfness. remains hidden flowered
in the F,. but reappeares in the F, generation flowered
without RR
y change
This is because the factors T and tremained Gametes :
together
in the hybrnd but segregated during garnete
formation
and entered differemt gametes. Progeny RI
186. Work out 2 monohy brid cross upto F, Pink-flowered
between two pea plants and two Antirrhinum generation, - It is
plants, because of incomplete dominance, where
both having contrasting traits with respect to neither of the two alleles is completely dominant
of ffower.
colour
Comment on the patterns of inheritance over the other and the hybrid is
intermediate
in the crosses carried above. |Delhi 2014C] between the two i.e. pink-flowered.
Ans. The plants must be crossed with awhite flowered 187. (a) Write the blood group of people with
(homozygous recessive) plant, i.e. a test cross is IE Give reasons in support of yourgenotype
conducted answer.
(b) In one family of four
Garden Pez children, each has a
- If the plant is homozygous dominant, all the plants in
different blood group. Their mother has blood
the progeny would bear red fiowers (heterozygous)
group A and their father has blood group B.
and if the plant is heterozygous. the progeny would Work out a cross to explain how it is
possible.
consist of red-flowered plants and white-fowered |Foreign 2013)
plants in the ratio of 1 :1. Ans. (a) The person will be of 'blood group AB;
since the alleles
I^ and I are
() Hom0Z) gous Red codominant, express
both
in the presence of the other, i.e. both themselves
Parents Red White Aand B are produced and glycoprotein
flowered flowered
hence, the person is of
blood group AB.
RR rr
(b) Since all the blood groups
(including the recessive
Ogroup) have appeared in the
Gametes :
be heterozygous for Bgroup and progeny, father must
be mother must also
Progeny (Rr Red-flowered) heterozygous for A group.
 Principles of Inheritance and Vartation 149
Father Mother (|^I)
Parents (6) () Yes, when the woman is homozy vgous
with
B group A group
for blood group A. the ch1ldren can be
i only blood group A
Father
Parcrts Mother
Gametes
A-group O-group
Pregeny

AB-group B-group Gamete:

Progeny Ii(A-group)
^i
Or
A-group O-group No, When the woman is heterozygous
ABO blood group is under the control of a
single gene, which exists in three allelic forms. (I^) for blood group A. children
will be ofA group and O group.
JA B and i, i.e. it shows multiple allelism Parents: Mother Father
JA is dominant over iand P is also dominant A-group O-group
Over i.
A and I are equally dominant and exhibit Gametes : i
codominance and produce blood group AB.
Six genotypes are possible with the three alleles
Progeny:
and they produce four phenotypes, i.e. blood
and O. i
groups A, B, AB O-group
(A-group)
Listt the three different allelic forms of
gene I (i) Yes. when the woman is heterozygous ( )
I88. (a) in humans. Explain the different phenotypic
for blood group A, children can be with either
expressions, controlled by these three forms. blood group A or O (as in the cross above)
man
(b) Awoman with blood group 'A' marries a Or
with blood group "0°. Discuss the possibilities
of the inheritance of the blood groups in the No, when the woman is homozygous (I^T^)
following, starting with "yes' or 'no' for each: for blood group A, the children can be with
only blood group A (as in the first cross of
() They produce children with blood group () of this answer).
*A' only.
I89. What is the inheritance pattern observed in the size
(in They produce children, some with 0' of starch grains and seed shape of Pisum sativum?
blood group and some with A' blood
Work out the monohybrid cross showing the above
group. |Delhi 2012: HOTS| traits. How does this pattern of inheritance deviate
Ans. (a) Inheritance of human blood-group character from that of Mendelian law of dominance.
The gene for blood group character exists in |Deibi2012|
three allelic forms, I^, I and i; it is a case of Ans. Inheritance of size of starch grains and seed-shape
multiple allelism in Pisun sativum
The phenotypes and genotypes of these alleles - In Pisum sativum, a single gene controls two
are as follows: phenotypes:
Blood group Genotypes) () the size of starch grains
A ^or ^ i (i) the seed-shape and such a phenomenon, is
called pleiotropy.
B B B or [Bi
Starch synthesis is controlled by a gene, which has
AB two alleles, B and b.
ii Starch is synthesised etlectively by homozygote BB
The alleles 1^ and I are codominant and and the starch grains are large.
express themselves as blood group AB, when - Homozygotes bb, have lesser efficiency for starch
they are together. synthesis and hence the starch grains produced are
Blood group O is homozygous recessive. small.
 150 aacke a Biology-12
After maturation. BB seeds are round and bb seeds Ans. (a) Axial floweris dominant. over
are winkied. temminal
plant with (AA)or heterozygous
Heterozvgotes Bh, produce round seeds, i.e. round If the plant is homozygous
(Aa) flower, te
sead-shap isdominant over wrinkled seed-shape.
But the starch grains in them (Bb) are of intermediate
flowers, all the plants
axial flowers.
the domiprogenynant forwil hav.
size: this shows that the alleles show incomplete Parents Axial
dominanc for the size of starch grains, though they
show complete dominance (round seeds) for seed flowers
X

Teminal
shane. AA flowerAa s
- The cross is as follows: Gametes
a
Parents Round Wrinkled Progeny Aa (Axial flowers)
Seeds Seeds If the plant is
Large Small
heteroZygous, progeny
consist of equalproportions of
the wil
flowers and terminal flowers.
plant's with axil
grains grains
BB Parents Axial
Gametes B
bb
flowers
X
Terminal
Aa
flowers
Bb
Bb B
Gametes a

Carmete B) b Progeny A
F. geneat:on : B Aa aa

BB Bb Axial Terminal
B Round seeds, Round seeds, flowers flowers
Large Intermediate (b) Law of segregation is universally
gTains grains itstates that the alleles of a trait thatacceptable;
remained
Bb bt together in a hybrid segregate during gameto
b
Round seeds, Wrinkled genesis and enter different gametes.
Intermediate seeds, 191. Let us assume in a given plant, the
grains Small grains 'Y' stands for dominant yellow genotype symbol
seed colour and
- The phenotypic and genotypic ratios are the same 'y' for recessive green seed
2nd are 2s follows:
colour;
round seed shape and 'r' for wrinkled symbol "R' for
seeds. Two
Round seeds, Round seeds, Wrinkled seeds. homozygous parents (plants) with genotypes 'RRYY
and 'rryy' are crossed and their F,
Large : Internediate Small progeny is then selfed. What shall be thegeneration
starch Starch (a)
grains
starch
(6)
Phenotype of F, progeny
grains grains
(c)
Genotype of F, progeny
BB Bb bb Gamete genotypes of F, progeny
2 (d) Phenotypie ratio of F,
This has deviated from the Mendelian monohybrid (e) Phenotypic ratio of population
phenotypic ratio of 3: I due to incomplete dominance seeds and round seeds yellow seeds to green
to wrinkled seeds in
of one of the traits controlled by the gene. population.
Ans. (a) Round and yellow seeds
190. (a) Apea plant bearing axial Howers is crossed
(b) RrYy
with a pea plant bearing terminal Howers. The
cross is carried out to find the genotype of the
pea plant bearing axíal Howers, Work out the (d) 9 round, yellow
seeded: 3 Round,
cross to show the conclusion you arrive at. wrinkled, yellow-sceded: Iwrinkled,green-seeded: 3
(6) State the Mendel's law of inheritance that is (e) Yellow-seeds: green seeds 3:| green-seeded
universally acceptable. |A1 2017| Round secds: Wrinkled sceds =3:|
 Principles of Inheritance and Variation 151

explainthe law of independent assortment' in a typical Mendelian dihybrid cross. Defhi 2o1
State and Or
192.
(a) Workout a dihybrid eross upto F generation between pea plants bearingviolet-coloured axíal lowers and
white-coloured terminal lowers. Give their phenotypic ratio.
Mendel's law of inheritance that was derived from such a eross.
Statethe
(b) Or
typical Mendelian dihybrid cross and state the law that can be derived from it
Work out a Assortment
L yof Independent
Ans. (a) This law states that when two pairs of traits are combined in hybrid, the factors of every character segegate
independently of the factors of other pair of characters.
(6) Parents Axial, violet Terminal, white
flowered fowered
AAVV aavv

Gametes av)
F, generation AaVv(Axial, víolet flowered)
AaVv AaVv
Selfing
Av
Gametes
F, generation AV Av aV av

AAVV AAVy AaVV AaVv

AV Axial, violet- Axial, violet Axial, violet Axial. violet
flowered flowered flowered flowered
AAVV AAvv AaVv Aavv
Av
Axial, violet Axial, white Axial, violet Axial, violet
AaVV AaVv aaVV aaVv
ay
Axial, violet Axial, violet Terminal, violet Terminal, violet
AaVy Aavy aaVv aavv
ay
Axial, violet Axial, white Terminal, violet Terminal, white
Axial, violet flowers :AAVv
193. (a) A garden pea plant bearing terminal, violet Axial
flowers, when crossed with another pea plant Parents Terminal
Violet Violet
bearing axial, violet flowers produced axial,
flowers flowers
violet fAowers and axial, white fowers in the AAVV
aaVv
ratio of3 : 1.
Gametes :
Work out the cross showing the genotypes of Av
Progeny: AV
the parent pea plants and their progeny.
AaVV AaVv
(6) Name and state the law that can be derived from Axial,
aV Axial,
this cross and not from a monohybrid cross.
Violet flowers Violet flowers
|AL2012: HOTS|
AaVv Aavv
Ans. (a) Dihybrid cross:
av Axial, Axial,
Since white flowers have appeared in the Violet flowers White flowers
progeny, both the parents must be heterozygous The phenotypic ratio:
for flower colour, ie. Vv. l axial, white flowers is
3 Axial, violet flower:
Since all plants in the progeny have axial justified
llowers, the parent with axial flowers, must be (b) Law of independent assortment
homozygous for the trait, i.e. AA. It states that when two pairs of traits are combined
Genotypes of the parents are as follows: in a hybrid, segregation of one pair of traits is
independent of the other pair of trait.
Terminal, violet flowers : aa Vv
 152 agetke i Biology-12
segregation as Mendel proposcd thelaw ofindependent:
194 (e) State and explain the law of cross.
proposed by Mendel in a monohybrid
(6) Write the Mendelian F, phenotypic ratio in a
which statcs that when twO pairs of
combined in ahybrid, segregation of a\Srsaoitrsimem
one are
traits is independent of the other pair of pair of
dihybrid cross, State the law that he proposed on Law of segregation is.sabout apair of allelestrait.
the hasis of this ratio. How is this law different of one
from the law of segregation? |Forvign 2015| traitlgene, while the law of independent
Ans (a) Refer to ans. 185. is about the segregation of two or more as ortmen
alleles or genes, independent of one anotherpairs of
(b) The Mendelian F, phenotypic ratio is 9:3:3:1.
195. Across was carried out between apea plant, heterozygous for round and yellow seeds with a pea plant having
wrinkled and green seeds.
(a) Sbow the cross in a Punnett square.
(b) Write the phenotypes of the progeny of the cross.
(c) What is this cross known as? State the purpose of conducting such a cross.
Wrinkled, green
|Forcign 2014
Ans (a) Parents Round, yellow
RrYy ryy
Ciamctes RI) (Ry) (r) (r) )
Progeny RY R
RrYy Rryy rYy ryy
Round Round Wrinkled Wrinkled
yellow green yellow green

(b) The phenotype ratio of the progeny is as follows :

Round, Round, Wrinkled, Wrinkled,
yellow green yellow green
1
(c) This is a test cross.
- It isused to determine the genotype of an individual with dominant phenotype.
196. (a) What is polygenic inheritance? Explain with the help of a suitable example.
(b) How are pleiotropy and Mendelian pattern of inheritance different from polygenic pattern of inheritance?
JAL2016|
Or
(a) How are Mendelian inheritance, polygenic inheritance and pleiotropy diferent from each other?
(b) Explain polygenic inheritance pattern with the help of a suitable example. JAT20151
Ans. (a) Posgenic inheritance
- In this phenomenon, one character is controlled by more than one gene and cach gene contributes to the
phenotype; so it is the additivecumulative effect of all the genes that is expressed.
Human skin colour is believed to be controlled by three different genes, A, Band C, where darkness is dominant
over lighu/fair skin colour.
- Inacross betwen an individual with the darkest skin (AABBCC) andanother individual with the ichtest skin colour
(aabbcc), the F, individuals will have an intermediate skin colour (AaBbCc, heterozygous for all the genes).
When two such individuals are crossed, the phenotypic ratio in the F, generation will be 1 :6: 15: 20: 15
6:1, ie, the phenotype is dependent upon the number of coniributive (dominant) alleles and is auantitative.
(b) Pleiotropy Mendelian inheritance
Polygenic inheritance
In this, a single gene controls more Every character is controlled by Each character is controlled by
than one phenotype. a single gene. two or more genes.
The F, resembles one of the parents, The F, offspring resembles the The F, offspring shows
i.e., dominant parent. dominant parent.
intermediate phenotype,
between the two parents.
There is no gradation in the phenotype. There is no gradation ofphenotype. There is gradation of phenotype.
 Principles of Inheritance and Variation 153
Differentiate between the following:
197 Polygenic inheritance and Pleiotropy Codominance:
(a) Doominance, - It is the phenomenon in which two alleles
(6)dominance
Codominance and Incomplete of a gene are equally dominant and express
|AL 2013CI themselves in the presence of the other.
Refer to ans.
196 (b)
(a)
Ans. The hybrid shows characters of both the parents.
(b) Dominance:
It is the phenomenon in which one allele of Incomplete dominance:
a gene expresses itself and suppresses the - It is the phenomenon in which neither of the
expression ofthe other (recessive) allele of the two alleles of a gene is completely dominant
over the other.
same gene, when they are present together in a
hybrid. - The hybrid is intermediate between the two
The hybrid resembles one of the parents. parents.

198. Both Haemophilia and Thalassemia are blood related disorders in humans. WVrite their causes and the differences
betwecnthe two. Name the category of the genetic disorders, they both
come under. |A12017
Ans. CaUSes:
Haemophilia is caused by a defective recessive allele on
cascade of proteins involvedI in blood clotting is impaired.
X-chromosome:; a single protein which is a part of the
Thalassemia is caused by mutation or deletion of one or more of the alleles on
autosomes 16 and 1l: there is less
production of. alpha chain(s) (a-thalassemia) or beta chain(s) (B-thalassemia) of
haemoglobin and there is anaemia.
Differences:

Haemophilia Thalassemia
The gene for haemophilia is present on the The gene is present on the autosome.
X-chromosome.
Afemale passes the X-chromosome to the male Since it is autosomal, both the parents can pass it on
ofispring while the male parent passes it to the female to the male and female oftspring with equal chances.
progeny.
It appears more in males than in females.
It occurs in equal frequency among males and females.
They both come under Mendelian disorder.
19, (a) Haemophilia is a sex-linked recessive disease. (b) Why is thalassemiacategorised as a Mendelian
Study the pedigree analysis given below disorder? State the condition when an individual
showing the inheritance of the disease in a will suffer from the disease. |Foreign 20134
family and answer the questions that follow: Ans. (a) () 1. It has occurred in males; since, the male
receives the X-chromosome from the
female parent, the gene must be sex-linked.
1 2 i.e. present on X-chromosom.
2. Since the disease is not shown by the female
parent, it must be caused by a recessive
allele: the female has two X-chromosomes
3 6 7
and for the disease to appear, she must be
homozygous recessive.
(ii) Individual 2- Xxh
9 10 11 12 13 5 - xY
) Give the evidence from the above analysis, (b) - Thalassemia is categorised as a Mendelian
which suggests that the disease is (1) disorder because:
sex-linked and (2) caused bya recessive (i) It is due to mutation or deletion of a single
allele. gene.
(ii) The trait is transmitted in the same lines as
(1) Write the possible genotypes of the Mendelian principles of inheritance.
individuals '2' and '5'.
 154 auikr a Biology12
Such individuals are sterile.
() The pattem of inhenitance can be traced in
afamily by rdigre analysis. They show gynaecomastia
and
- The oftsping who is bomozygous rceive
for the trait will suffer from the disease.
characters.
To avoid sucha hereditary
was advised MTP.
f
disorder, the
eminine
200. Write the types and location of the genes causing
thalasemia in humans, State the cause and symptoms 202. (a) VWhy are thalassemia and NOman
of the disease. How is sickle-cell snacmia different
from this disease? |Forcign 2014)
\ex Thalassemia is of two types, a-thalassemia and
categorised as Mendelian
the symptoms of these
pattern of inheritance in humans.diseases. haemophilhe,x
disorders?
Explain
thalassemia (b) Write the genotypes of the normal
-Thalasxemia
It is under the control of two genes, HBA, and Ans. (a)
producing a haemophilic son.
Thalassemia and haemophilia are
parent
HBA_ both located on chromosome 16.
- The synthesis of a-globin chain of haemoglobin is
Mendelian disorders, for the cat
following egorised
) Theyare mainly dueto alteration. reasons:
as
or
impaired
The victim suffers from anaemia
in a single gene. mutation
(i)) These disorders are transmitted
-Thalassemia offspring in the same lines to the
- Itis under the control of asingle gene. HBB, present principles of inheritance, i.e. by the Mendelian
parents
on chroTIOSOme 11. who are carriers and are apparently nomal
The synthesis of B-globin chain of haemoglobin (i) The pattern of inheritance of these disorden
chain is impaired can be traced in afamily by pedigree analysis
- The victim suffers from anaemia Symptoms of Thalassemia.
Thalassemia Sickle-cell anaemia The victim suffers from anaemia as the synthesis
- It is a quantitative - It is a qualitative of either alpha globin chain(s) or beta globin
problem. where less problem, where
chain(s) of haemoglobin is impaired.
amount ofhaemoglobin defective haemo Symptoms of Haenmophilia.
issynthesised. globin (that is - Clotting of blood is affected as one of the factors
non-functional) is needed for clotting is not synthesised; so in a
synthesised. haemophilic individual, even a simple cut leads
201. (a) Why is haemophilia generally observed in to non-stop bleeding.
haman males? Explain the conditions under Inheritance pattern of Thalassemia.
which a human female can be haemophilic.
(b) A pregnant human female was advised to
Thalassemia is an autosomal, recessively
undergo MTP. It was diagnosed by her doctor inherited disorder, transmitted to the offspring
that the oetus she is carrying has developed
when both the parents are heterozygous/carriers
for the disease.
from a zygote formed by an XX-egg fertilised
by Y-carrying sperm. Why was she advised to Alpha thalassemia is controlled by two closely
undergo MTP? |AI2011| linked genes, HBA, and HBA,, located on
Ans. (a) - The gene for haemophilia are present on the
chromosome 16.
- Beta thalassemia is controlled by a
HBB, located on chromosome |1. single gene,
X-chromosome.
- Amale has only one X-chromosome and bears
only one allele for the trait ie. he is hemizygous Inheritance pattern of Haemophilia.
for the trait, as Y-chromosome does not have a Haemophilia is a sex-linked,
corresponding allele. inherited disorder, whose gene isrecessively
present on
the X-chromosome.
A female has two X-chromosomes,
received one from each of her parents; - It aflects more males than females, because
to develop the disease she has to be homorygous a male has only one
recessive, ie. her father must be a sufferer and female has two X-chromosome and the
mother either a sufferer or atleast a carrier.
X-chromosomes
homozygous recessive
and has to
be
for the disease to develop.
(b) - The zygote will be XXY and develop into a (b) Normal parents with
male with Klinefelter's syndrome. XX" (mother) can genotypes, XY (father) and
produce a haemophilic son.
 Pinciples of Inheritance and Variation 155

SELECT NCERT EXEMPLAR PROBLEMS

order to
obtanin the F, generation, Mendel the different groups were obtained in
In pure-breeding tall plant with a pure- phenotypic
1. pollinated a the progeny in numbers men tioned against them:
dwarf plant. But, for getting the F,
breeding
generation, he simply sclf-pollinated the tall F,
Tall, Red 138
Tall, White = 132
plants.Why? |HOTS)
understand the inheritance of the Dwarf, Red = 136
Mendel wanted| to
- selected Dwarf, White 128
trait over a number of generations.
are heterozygous, self-pollination Mention the genotypes of the two parents and of
Since all F, plants
study segregation of factors the four offspring types.
swas sufficient to
two tall
pea plants resulted in
cross between
2. A
offspring having few dwarf plants. What would be
Ans. The phenotypes obtained in the progeny fall into a ratio
of both the
parents? |HOTS| of 1:I:I:1, which is Mendelian dihy brid test cross
the genotypes ratio.
must be heterozygous for tallness,
Ans. Both
the parents
are Tt and Tt. - It is a cross between a dihybrid (heterozygous for
ie., their genotypes both traits) and a double recessive plant.
basis of wrinkled phenotype of
Whattiis the genetic
3. peaseeds? - The cross is as follows:
Parents Tall, Red Dwarf. White
Wrinkled seed-shape is a recessive trait; it is expressed
Ans.
homozygous condition of the recessive TRr ttrr
only under the
allele. Gametes (r) tR) (tr
4. What is

useful?
the cross between the progeny of F, and
homozygous recessive parent, called? How is it
the

AUS. It is called a
test cross.
Progeny

tr
TR

TtRr
Tall,
red
Tr

Ttrr
Tall,
White
tR

tRr
o ttrr
Dwarf, | Dwarf.
Red White
It is used to find the genotype of the F, individual with
dominant phenotype. The genotypes of the parents:
TRr and ttrr
5. How are alleles of a particular gene different from
each other? Explain its significance. The genotypes of the offspring:
TtRr, Ttrr, ttRr, and ttrr
Ans. - In a diploid organism, every gene exists as a pair
of alleles. 7. How was it concluded that genes are located on
chromosomes?
They may be different from each other, due to the
Ans. Sutton and Boveri noted that the behaviour of
changes, one of them has undergone; the changes chromosomes was parallel to that of genes.
have modified the information this allele contains.
The modified allele is normally the recessive allele,
() Both genes and chromosomes occur in pairs.
while the unmodified allele is the dominant one. (0) They segregate during gamete fonation and only
one member of'a pair cntes one gamete.
The modified allele may produce:
(ii) One pair of genes or chromosomcs segregates
() the normal or less efficient enzyme or
independently of the other pairs.
(i) a non-functional enzyme or
(iv) Since the number of chromosomes is far less
(iii) no enzyme at all. than the number of genes or traits an organism
- Accordingly, it may produce the same phenotype possesses, it is proposed that a number of genes
as the unmodified allele or the phenotype may be are located on every chromosome.
affected.
8. Honeybees produce their young ones only by sexual
0. In pens, tallness is dominant over dwarfness and reproduction. Inspite of this, we ind both haplold
red colour of flowers is dominant over the white and diploid individuals in the colony. Analyse the
reasons behind their formation.
colour. When a tall plant bearing red flowers was
pollinated with a dwarf plant bearing white towers,
 156 kn n Biology-12
Ans - Honeyhees reprduce sexually and form When fertilisation occurs,
gamctes. the
zygote
Those female gametes which develop without
fertilisation (purhenogenesis), develop into males/
female; it is diploid.
Hence, both diploid andIhaploid develops in
drones they are haploid found in acolony of honeybees.
individuas
PRACTICE QUESTIONS
Very Short Answer Type Questions [1 10. Name the genetic disorder caused by
1. Wite the contrasting traits of height of Mark)
pea plants.
stem in garden (a) trisomy of 21" chromosome.
(b) an extra X-chromosome in a
2. What term do you give to the trait or character,
which human male.
remains hidden in the F, bybrid or
heterozygous Short Answer Type [] Questions [2
assorting Marks]
condition. I1. A, B, Dare three independently
3. What will be the
genetic make up of the gametes their recessive alleles a, b, d genes with
produced by a plant with genotype T? made between individuals of respectively. Across was
4. Which one. or more of the genotypes AabbDA .
following characters in aabbdd. Find out the genotypes of the offspring.
Paam sativum is'are recessive? 12. Differentiate between Klinefelter's
(a) Axial fiowers
(6) Green colour of
Tumer's syndrome. syndrome and
seeds
(c) Constricted pods Short Answer Type [Il] Question [3 Marks]
(d) Green pods 13. In cattle, hornless (H) is dominant over
5. Write the possible black (B) is dominant over red (b). hornedthat(h) and
genotypes of blood group A. Consider these
two pairs of genes assort independently.
6. Write the
Mendelian dihytrid ratio. () What proportion of the offspring from the
7. Mention the stages of cross
meiosis, when BbHh x bbhh, would be black and hornless?
(a) the pairs of homologous
cquator of the spindle.chromosomes align at the (i) From the cross Bbhh × Bbhh, how
many will be
(b) the peirs of (a) black and horned and
homologous chromosomes segregate
independently of cach other. (b) red and horned
|HOTS|
8. What do circles and squares
represent in a pedigree Long Answer Type Question [5
char? Marks]
9. A haemophilic man 14. Write the symptoms of
marries a normal homozygous haemophilia and sickle-cell
woman. What is the probability that their daughter will anaemía humans. Explain how the inheritance pattern
in
of the two diseases differ from each other.
be haemophilic?

ANSWERS TO PRACTICE QUESTIONS

1. Tall and dwarf stems. 9. Zero per cent.
2. Recessive trait. 10. (a) Down's
3 Oand syndrome.
(b) Klinefelter's syndrome.
4. (b) Green colour of seeds, and II. Parents :
AabbDd aabbdd
(c) Constricted pods. Gametes
5. I^^ and 1^i. (Abd) (abD)(abd) abd
6. 9:3:3:1.
Progeny : AbD Abd abD abd
7. (a) Metaphase I
(b) Anaphase I. abd |AabbDd Aabbdd laabbDd aabbdd
8. Circle- females, Square - male. Offspring will be of the genotypes shown in the
table above.
 Principles of Inheritance and Variation 157

Klinefelter's syndrome
Turner's syndrome
extra X-chromosome in a male.
to an It is due to monosony of X-chronosome in z fetmale.
2 Ir is due
feminine characters.
The
maleshows more The female has under developed fermale secondary
sexual character.
BbHh
() Parcnts bbhh

Gametes
(BH) (Bh) H) (bh) bf
BH Bh bH bh
Progeny
BbHh Bbhh bbHh bbhh
bh Black. Black. Red. Red,
hormless horned hormless horned
hormless
25%% of the progeny will be black and
Bbhh Bbhh
(i) Parents
Gametes (Bh) (bh) B bh

Bh bh
Progeny
BBhh Bbhh
Bh
Black, horned Black, horned
Bbhh bbhh
bh
Black, horned Red, homed
hormed
(a) 3/4 of the progeny will be black and
(6) 1/4 of the progeny will be red and horned.

14. Symptoms of Hacmophilia:

Since a protein necessary for blood clotting is not formed, the blood does not clot and there is non-stop bleeding
in case of an injury in the affected individual.
Symptoms of sickle-cell anacmia:
The RBCs become sickle-shaped.
The oxygen transport to the tissues is impaired.
Differences:

Haemophilia Sickle-cell anaemia

It is due to a defective recessive allele present on - It is due to point mutation, i.e. a single base pair
the X-chromosome, i.e. it is a sex-linked disorder. change leading to a change in an amino acid, Le. it is
an autosomal disorder.
More males than females are affected. Both males and females are affected equally.
The female parent passes on the disorder to male - The female parent passes on the disorder to male or
progeny, but father never passes it on to the male female progeny in equal frequency and father also
progeny. passes on the disorder to male and female progeny.
 158 aorka m Bology-12

0BJECTIVE TYPE QUESTIONS

1 When 'Aa' is crosed with 'aa', (A is
dominant Motherand father of a person with
OVer a)
have 'A' and B' blood group
(e) all tbe offspring will have
dominant
() all the offspring will have recessive
phenotypc. would be the genotype of both respeetivcly.
|NERT mother
Fxemplarand'rutln
(c) 9of ofispring will bave dominant
phenotype. (a) Mother is homozygous for'A' falher
phenotype father is heterozygous for 'B', blood
and $0 willhave recessive
( 7$of offspring will have
phenotype. (b) Mother is heteroZygous for 'A'
group ang
dominant phenotype father is homozygous for 'B'. bloodd
\n (c)
and S0% will have recesive
phenotype. (c) Both mother and father arc
group an
Aheterorgous violet-lowered pea plant is
crossed
"A' and "B' blood group,
(d) Both mother and father are
heterozygous
respectivel,.
to another homozygous
violet-Aowered pea plant.
Wbat percent of the progeny plants will have the Ans. (c)
hom0zygous
and 'B' blood group, respectively. for
recessive trait, Le white flowers?
8. The inheritance pattern of a gene over
(e) 0%
(c) S0%,
(b) 25%
() 75%
among humans is studied by the pedigree
Character studied in the
generanalaytisionys,
pedigree analysis t.
ins (a) equivalent to: INCERT Exemplar Problems
From a cross AABb x aaBb, the (a) Quantitative trait. (b) Mendelian trait.
AaBb : Aabb will be genotypes AaBB : (c) Polygenic trait. (0 Maternal trait.
obtained in the ratio
(a) 1:1:2 Ans. (6)
(b) 1:2:1
(c) 2: 1l:1 9. Occasionally, a single gene may express more
() 2:1:2
one effect. The phenomenon is called: than
1ns. (o)
4. The INCERT Esemplar Problems
possibility
of all
a genetic cross is genotypes of offspring in
(a) multiple allelism (b) mosaicism
calculated by a (c)
representation which was developed by graphical pleiotropy () polygeny.
Ans. (c)
(e) Kornberg (b) T.H. Morgan 10. Conditions ofa karyotype 2n 1and 2n 2are
(c) Gregor Mendel () Reginald Punnett called:
1e. (d)
|NCERT Exemplar Problens
(a) Aneuploidy (6) Polyploidy
A woman with normal
vision has a colorblind father. (c) Allopolyploidy (d) Monosomy.
She marries a colourblind man. What Ans. (a)
of their children will be proportion 11. If a
colourblind? genetic disease is
transferred from a
(a) 0e (b) 25% phenotypically normal but carrier female to only
(c) S0% (4) 100%
some of the male progeny, the disease is:
Ans () |NCERT Exen1plar Problens
(a) Autosomal dominant
6. Study the pedigree chart given (b) Autosomal recessive
(c) Sex-linked dominant
(d) Sex-linked recessive.
Ans. (d)
12. In a dibybrid cross, if you get
that: 9:3:3:1 ratio it denotes
Select the correct option about the conclusion. |NCERT Exemplar Problesl
(a) The alleles of two
(a) It is a sex-linked recessive trait. each other.
genes are interacting Witn
(6) It is an autosomal recessive trait. (b) It is a
multigeníc inheritance.
(c) It is a case of
(c) Itis an autosomal dominant trait.
(d) The alleles ofmultiple allelism.
(d) It is a ser-linked dominant trait. two genes arc
Ans. (b) independently. segregating
Ans. (d)
 Princ1ples of Inheritance ant Variatson 159

anacmia glutamic acid is replaced by 2h. Match the items in Column I with thne in Colomn II.
slcklecell the following triplets codes for
In
L. valine. Which one of Colamn IE
|NCERT Exemplar Problems Column I
valine? (h) AAG 1 Potyzeic inheritarce
(a) GGG A. ABO blood group
(d) GUG in humans.
(c) GAA
B. Flower colour in 2 Mendelran zenetic
( thefollowing
traits studied by Mendel in snapdragon. disorder.
Whichof dominant trait? C Hurman skin colour 3 Sex-linked
pea is a
oarden
la) Terminallowers. Mendelian disorder
(6)Inflatedpod. D.Pheny lketonuria. 4. Incomplete domimance
Green colour ofseed. 5. Multple allelrsrn.
c) colour ofpod.
DYellow Ans. A - 5. B - 4, C - 1. D - 2
27. Match the sexchromosome complements in Column I
A0s. (0) haemophilic woman marries a normal man,
with the male/female organisms in Column II.
15. Ifa their children will be normal.
(a) all Column I Column I
their sons will be haemophilic.
(6) all
i all their
daughters willbe haemopbilic A XO 1. Human male
50% daughters willbe haemophilic. B XX 2. Male bird
(À 50%sons and C. XY 3. Male grasshopper
As. (b)
21st chromosome in a male, leads to D. ZZ 4 Female Drosophila
Trisomy of 5. Female bird
syndrome.
Ans. Down's. Ans. A-3. B - 4, C-1.D- 5
complement of afemale bird is 28. The recessive trait appears only under homozygous
17. Sex chromosome
irue Falsei
condition.
Ans. ZW. Ans. True.
blood groups O,
18 If three children in a family have 29. The phenotype of the F, hybrid resembles the dominant
parents must be
AB and A, the genotypes of the parent, when there is incomplete dominance.
and Tiruc alsel
Ans. I^i, IBi. Ans. False.

19. Mendel's law

of explains the expression 30. The cross between the F, hybrid with a homozy gous
of only one form of the trait in F, hybrid. dominant individual, is called a test eross.Iruc False!
Ans. Dominance. Ans. False.
humans causes 31. Mendel could not have framed the law of independent
20. XO chromosomal abnormality in
syndrome. assortment, if the genes he had studied, showed linkage.
Ans. Turner's. (True False
was the first to observe the X-chromosome Ans. True.
21
in a few insects. 32. 9: 3:3:1is the genotypic ratio of a Mlendelian
dihybrid cross. |True Falsel
Ans. Henking.
Ans. True.
22. The physical association between two genes on a
chromosome, is termed as by Morgan. Directions (Q33 to 035): Mlark the odd one in each of the
Ans. Linkage. following groups.
23. Female heterogamety is observed in 33. Phenyl ketonuria, Sickle-cell anaemia, Cystic fibrosis,
Colourblindness
Ans. Birds.
Ans. Colourblindness.
24. Cystic fibrosis and haemophilia are examples of 34. Inflated pods, Terminal flowers, Yellow seeds, Green
disorders.
Ans. Mendelian. pods (all in garden pea).
Ans. Terminal flowers.
25. In sickle-cell anacmia, the amino acid, glutamie
acid is substituted by in the beta chain 35. Turner's syndrome, Klinefelter's syndrome, Down's
of haemoglobin. syndrome, Haemophilia.
As. Valine. As. Haemophilia.