GREGOR JOHANN MENDEL

PRINCIPLES OF INHERITENCE AND VARIATION He was an Austrian monk

He is known as father of genetics
He conducted hybridization experiment on
Genetics
garden pea plant (Pisum sativum ) for 7 years
It is the study of inheritance and variation
(1856-1863)
It is the study of genes and chromosomes
Based on his experiment he proposed ‘laws of
Inheritance
inheritance’ in living organisms .
It is the transmission of characters from
Mendel selected 7 pairs of true breeding plants
parents to offspring
varieties, which are given below
It is the tendency of offspring to resemble
their parents
Sl Contrasting Dominant Recessive
Variation
No. character
It is the tendency of offspring to differ from 1 Height of Tall dwarf
their parents the plants
The main reason for variations are 2 Seed shape Round Wrinkled
 Crossing over 3 Seed colour Yellow green
 Mutation 4 Pod shape Inflated Constricted
Human knew from as early as 8000-1000BC (full)
5 Pod colour Green Yellow
that one of the cause of variation was hidden
6 Flower Axial Terminal
in sexual reproduction .They exploited
position
variation seen in nature (Plants and animal) to 7 Flower color Violet White
select organism with desirable characters.
Eg: Sahiwal cow (Punjab)

GENETIC TERMS Reason for selecting garden pea plant

Allele :
1. Plants shows clear contrasting character
They are alternative form of a gene
2. Easy to cultivate
Eg: T,t,R,r,Y,y
3. It has bisexual flower
Phenotype
4. Cross pollination is easy if self
The physical appearance of an organism is
pollination is prevented
called Phenotype
5. Floral structures are suitable for cross
The visible character of an organism is called
pollination if self pollination is
phenotype
Eg: Tall plant, blue eye, round seed prevented.
Genotype
The complete genetic constitution of an
organism is called Genotype.
Eg: Tt,TT,RR,Rr,YY,Yy Rea son fo r mendel ’s su
Homozygous (True breeding/Pure line) ccess
1. Gradual planning
An organism with 2 identical allele of a gene 2. Attenetion was focused only on one
Eg:TT,RR,YY,YY,rr,tt character at a time
Heterozygous 3. Maintenance of accurate record of result
An organism with 2 different allele of a gene obtained
Eg:Tt,Rr,Yy 4. Careful experimentation and
observation
5. He was a lucky person (didn’t find
linkage phenomenon )
Monohybrid cross-Inheritance of one
gene Monohybrid genotypic ratio= 1:2:1
Monohybrid phenotypic ratio =3:1
It is the cross between 2 parents differing in
one character pair.
Mendel crossed tall plants and dwarf pea Example-2
plant to study the inheritance of one gene.
He collected seed produced as a result of
above cross and grew them to generate F1
(1st filial generation).
Mendel observed that all the F1 progenies
were tall (Like one of its parent and none
were dwarf ) .
He then self pollinated the F1 progeny (Tall
plants ) to generate F2. He observed that
75% of the F2 progenies were tall and
25% were dwarf (Ie: 3:1)
Ie: characters that was not seen in the F1
generation expressed in the F2 (dwarf)
Based on this observation mendel proposed
that something being was being stably
passed down unchanged from parents to
offspring through gametes over successive
generation. Mendel called it as factors. Now
we called them as genes.
Example-1

Monohybrid genotypic ratio= 1:2:1

Monohybrid phenotypic ratio =3:1

PUNNET SQUARE
 It was developed by British geneticist
Reginald C Punnet
 It is the graphical representation to
calculate the probability of all possible
genotype of an offspring in a genetic
cross .
 The possible gametes are written on 2
sides , usually on the top row and left
column. All possible combinations are
written in boxes below in square.
 Example Test Cross
 It is the crossing of F1 progeny with its
recessive parent .
 It is used to find unknown genotype of an
individual.

Monohybrid genotypic ratio= 1:2:1

Monohybrid phenotypic ratio =3:1

BACK CROSS & TEST CROSS

Back cross
 It is the cross of F1 progeny with one of its
parent

Monohybrid Test cross ratio= 1:1

Dihybrid test cross ratio=1:1:1:1

Qn. What will be the genotype of a tall plant

which produce tall plant and dwarf plant
in the ratio 1:1 during test cross.?
Ans:
M endel’s L aws on Inhe Dihybrid cross-Inheritance of 2 genes
ritan ce (Principles of “It is a cross between 2 parents differing in two
character pair”
inheritance) Example-1
1. Law Of Dominance (1st law)
The main points are …
i) The characters are controlled by
discrete units called factors
ii) actors occur in pair
iii)in a dissimilar pairs of factors
(Heterozygous) one member of pairs
dominates over the other. (The
dominated one is called Dominant , and
suppressed character is called Recessive)

 This law is used to explain the expression of

only one of the parental character in the F1
of monohybrid cross.
 This law explains the proportion of 3:1
obtained at the F2

2. Law of segregation
(2nd law/law of purity of gamete)

“During gamete formation 2 factors for a

character present in an individual will
separate from each other and enter into
each gamete”

 Both 1st and 2nd law of Mendel obtained

from monohybrid cross .

Dihybrid phenotypic ratio=9:3:3:1

Dihybrid genotypic ratio :1:2:1:2:4:2:1:2:1
Example-2 Qn. Write the different gametes produced
from the plant with genotype TtRr ?
Ans:

3. Law of Independent assortment

(3rd law)
This law is formulated from Dihybrid cross
This law states that
“when more than one pair of characters are
involved in a cross, factor pairs
independently segregate from other pair of
characters “
Ie:

This law is not applicable for the

genes located on the same
chromosome
Ie: Linked gene.
Linked genes are exception to
mendelian principle

Dihybrid phenotypic ratio=9:3:3:1

Dihybrid genotypic ratio
=1:2:1:2:4:2:1:2:1
Ratio b/w parent and none parent
(recombinant) =10:6
Number of different phenotype in
the F2 dihybrid cross = 4
Number of different Genotype in
the F2 dihybrid cross = 9
 Remya Notes
DEVIATION FROM MENDELISM (large sized starch grains)
/MENDLIAN PRINCIPLE  bb-------- lesser efficiency in starch
synthesis (small sized starch grains)
1. Incomplete dominance  Bb------ Intermediate sized starch
 It is the inheritance in which the grains
heterozygous offspring show
2. Co Dominance
intermediate character between 2
parents.  Here both alleles of gene are expressed
Example-1 in heterozygous condition.
 Carl Correns of Germany conducted Example-1
hybridization experiment in Mirabilis ABO Blood group
jalapa (4 o’ clock plant/ snap  ABO blood group is controlled by the gene
dragon/Dog flower) is given below ‘I’
 ‘I’ gene has 3 alleles –IA ,IB, i
 The allele IA and ,IB produce slightly
different form of the sugar .
 This sugar are protrudes from the plasma
membrane of RBC.
 ‘i’ donot produce sugar
 When IA and I are present in an organism
(IAi), only IA expressed because ‘I’ donot
produce any sugar .
 When IB and I are present in an organism
(IBi), only IB expressed because ‘I’ donot
produce any sugar .
 When IA and IB are present in an organism
(IAIB), They both express their own type of
sugars.This is due to co dominance. Such
RBC contains both sugar ‘A’ and ‘B’ type of
sugars.
Blood Group Genotype
(Phenoype)
Phenotypic ratio=1:2:1 A IAIA,IAi
Genotypic ratio=1:2:1 B IBIB,IBi
AB IAIB
 In the above example ‘R’ is not O ii
completely dominate over ‘r’. This is
due to incomplete dominance. So the  There are 4 different phenotype present
heterozygoys off springs show in ABO blood group
sintermediate character between 2  There are 6 different phenotypes
parent s. present in ABO blood group
Example-2
Starch grain size in Pea seed
 Starch grain size in pea seed is controlled
by one gene. It has 2 alleles (B and b)
 BB------starch synthesized effectively
3. Multiple alleles 5. Polygenic inheritance
 Some genes have more than 2 alleles. A character whose expression is
This phenomenon is called multiple controlled by number of genes is called
allelism . polygenic inheritance .
 Example-1 Besides the involvement of multiple
ABO Blood group genes, polygenic inheritance also takes
 ABO blood group is controlled by the gene into account the influence of
‘I’ environment .
 ‘I’ gene has 3 alleles –IA ,IB, i Example-1
 These alleles are located at the same locus Human Height
in a given pair of homologus chromosome . Example-2
Human Skin Colour
Skin color is controlled by 3 pairs of gene
4. Pleotropy
(A,B,C)
 Multiple effect of a gene is called pleotropy
AABBCC--Dark Skin
 Here single gene may produce more
AaBbCc--Intermediate Color skin
than one effect.
Aabbcc--Light color skin
 The underlying mechanism of Pleotropy in
most case is the effect of a gene on
metabolic pathway-which produce different
phenotype. Publication Of
Example-1
White eye mutation in Drosophila result Mendel’s Work
changes in body color (depigmentation
 Mendel published his work his work in
in various body parts)
1865
Example-2  But scientists of his time did not accept his
Starch grain size in pea seed and seed theory because
size
Reason
Genotype Phenotype i. Communication was not easy
Starch Seed
ii. He used maths to explain biological
grain size shape
phenomenon was totally new
BB Large Round
bb Small Wrinkled iii. He could not provide any physical
Bb Intermediate Round proof for the existence of factors
iv. His concept of factors (Genes) are
Here a single gene control both starch stable and discrete units was not
grain size and seed shape accepted at that times, because
Example-3 variations are seen in nature .
PKU (Phenykenonuria)

The disease is caused by the mutation in

the gene that code for the enzyme
phenylalanine hydroxylase. it result
mental retardation, reduction in hair,
pigmentation in skin.
 Rediscovery of Experimental verification of
chromosomal theory of inheritance
Mendelian Principle It is done by Thomas Hunt Morgan
In 1900, three scientist namely Carl He conducted his experiment of Fruit fly
correns, Hugo De Vries, Von Tschermrk (Drossophila melanogaster )
independently rediscovered mendel’s Reason for selecting fruit fly
law in inheritance i. It can grown on simple synthetic
By this time microscope are advanced medium.
Scientist observed cell division ii. It has short life span (2 weeks)
This lead to the discovery of a structure in iii. A single mating produce large
the nucleus that appeared to double and number of progenies.
divide just before cell division, these were iv. There is clear difference between
called chromosome (Colored body- male and female. (females are larger
because that can see only by staining ) than male ).
By 1902 chromosomal movement v. Hereditary variation can seen with
during meiosis had been worked out. low power microscope .

Chromosomal theory Experiment

T.H. Morgan conducted dihybrid cross to
of Inheritance study the genes that were sex linked.

Proposed by Walter Sutton and Theodore

Bovery In 1902
“Paring and separation of a pair of
chromosome will lead to segregation of a
pair of factor they carried”
Sutton united chromosomal segregation
with mendelian principles and called it as
chromosomal theory of inheritance. It
states that
Chromosomes are vehicles of heredity
2 identical chromosome forms a
homologous pair
Homologous pair segregate during
gamete formation
Independent pair segregate
independent each other
Behavior of chromosome is parallel to
behavior of genes, because genes are
located on chromosomes.

In the cross A , F2 ratio is deviated from

normal Mendelian dihybrid ratio (10:6). It
is due to linkage.

Remya Notes
 The physical association of genes in a Henking (1891) studied spermatogenesis
chromosome is called linkage, such in some insects.
genes are called Linked genes . He observed that 50% of sperm received a
The genes for yellow body, white eye and nuclear structure after spermatogenesis,
gene for brown body ,red eye are located other 50% of sperm did not received it .
on X chromosome (Sex linked/X linked Henking called these nuclear structure as ‘X
genes) and are tightly linked genes body’, now it is called as X-chromosome
Tightly linked genes shows low
recombination (Non parent type) Mechanism of sex determination
Loosely linked genes show high Various types of sex determinations are
recombination given below
a)XX-XY mechanism –Human
being,drosophila
Mapping of genes b)ZZ-ZW mechanism-Birds
c)XX-XO mechanism-Insects
Proposed by Alfred Sturtevant (Student d)Haplo-Diplody mechanism-Honey bee
of T.H Morgan)
He mapped position of genes in a a)XX-XY mechanism –Human being,
chromosome drosophila
He used recombination frequency between Here both male and female have same
gen pairs for measuring the distance number of chromosomes.
between genes Males are heterozygous (XY) and produce 2
Genetic maps are used in human genome types of gametes (Sperms) containing only
project (HGP) X Or Y chromosomes besides Autosomes.
Females are homozygoys (XX) and produce
6. Linkage only one type of gamete (egg/ovum)
containing only X chromosomes besides
The physical association of genes in a
Autosomes.
chromosome is called linkage, such genes
are called Linked genes . Sex of the baby is determined by the type of
Sperm entering into the egg
Linked genes are exception to law of
independent assortment (3Rd law) If the sperm containing X chromosome
enter into egg female baby is produced
The term linkage and crossing over is
If the sperm containing Y chromosome
introduced by TH Morgan.
enter into egg, male baby is produced.
So sex of the baby is determined by the
Sex Determination father not the mother in XX-XY mechanism.
The chromosome involved in the sex
determination is called sex chromosome
(Allosome). It include ‘X’ and ‘Y’
chromosome.
Autosomes are chromosome present in an
organism other than sex chromosome.
The number of autosomes are same in both
male and female of same species

Remya Notes
 Ie: Male insect will determine the sex of
b)ZZ-ZW mechanism-Birds the baby
Here both male and female have same
number of chromosomes.
Females are heterozygous (ZW) and
produce 2 types of gametes (Eggs)
containing only Z or W chromosomes
besides Autosomes.
Males are homozygoys (ZZ) and produce
only one type of gamete (Sperms)
containing only Z chromosomes besides
Autosomes.
Sex of the baby is determined by the type of
Egg into which sperm enter
If the Egg containing Z chromosome
Receives a sperm, male baby is produced d)Haplo-Diplody mechanism-Honey bee
If the Egg containing W chromosome
Receives a sperm, Female baby is produced
So sex of the baby is determined by the
Mother not the Father in ZZ-ZW
mechanism.

c)XX-XO mechanism-Insects
(Grasshopper)
Here males are one chromosome less than
(Sex chromosome )that of females Here females are diploid(32
Females are homozygous (XX) and produce chromosomes) and males are Haploids
only one type of gamete (Egg/Ovum) (16 chromosomes), this type of sex
containing only X chromosome besides determination is called haplo-diploidy sex
autosomes. determination
males are heterozygous (XO)and produce Here males (Drone) produce sperms by
two types of gametes (Sperms).50% of mitosis. They do not have father and thus
sperms contains X chromosomes besides cannot have sons, but have grandfather and
autosomes, the other 50% sperms contains have grandsons.
only autosomes (Sex chromosome absent )
so sex of the insect is determined by the
type of sperm enter in to the egg.
 The symbols used in pedigree analysis is
MUTATION given below
Sudden heritable change in the DNA
sequences resulting in a change in genotype
and phenotype of an organism.
The substance that cause mutation is called
Mutagen

Mutation results in chromosomal

abnormality (Chromosomal aberrations)
Chromosomal aberrations are seen in
cancer cells.
Mutations are of 2 types
a)Point mutation
b)Frame shift mutation

GENETIC DISSORDERS

Hugo Devries Proposed mutation theory. He

conducted his experiment in Evening prime rose
(Oenothera lamarckiana)

PEDIGREE ANALYSIS
It is the analysis of trait in a several
generations of a family is called pedigree
analysis.
Here inheritance of a particular trait is
represented in the family tree (Chart
showing family history) over generation.
This analysis is used to trace the
inheritance of a specific trait or abnormality
or a disease
 A)Mendelian dissorder Normal male XCY

It is due to mutation or alteration in the Normal female XCX

single gene. C
Color blind male
This disorder are transmitted to the
XcY
offspring as we studied in the principles of Color blind female
inheritance XcXc
Color blind carrier (Female)
This disorder can be traced in a family
using pedigree analysis. XCXc
It occurs 8% of male and 0.4% of female
This is due to gene mutation for red and
1.HAEMOPHILIA/BLEEDER’S
green colour. They are located on X-
DISEASE/ROYAL DISEASE
Chromosome. Males have only one X-
It is a sex linked (X-linked )recessive Chromosome and female s have two X-
disease chromosome.
Here a single protein that is a part of chain A daughter will not be normally colour
(cascade) of protein involved in clotting of blind unless her mother is a carrier and
blood is affected. Due to this, in affected father is a color blind.
individual a simple cut will result nonstop
bleeding
3.PKU (PHENYLKETONURIA)
Genotypes are
This is the autosomal recessive trait.:
Normal male XHY
PKU is an inborn error in amino acid
Normal female XHXH
metabolism
Hemophilic male XhY
The affected individual lacks an enzyme
Hemophilic female XhXh
(phenylalanine hydroxylase) that
Hemophilic carrier (Female) XHXh
converts the amino acid phenylalanine into
The disease is transmitted from an
tyrosine. As a result of this phenylalanine is
unaffected carrier female (XHXh )to some of
accumulated and converted into
male progeny
phenylpyruvic acid and other derivatives.
The possibility of a female becoming Accumulation of these in brain results in
hemophilic is extremely rare, because mental retardation. These are also excreted
mother of such female has to be at least through urine because of its poor
carrier and father should be hemophilic (He absorption by kidney.
is unviable in the later stage of life)
The family pedigree of Queen Victoria
The genotypes are
shows number of hemophilic descends. she Normal AA
was a carrier for this disease.
Carrier Aa
2. COLOUR BLINDNESS
Affected aa
It is a sex linked (X-linked )recessive This disease is transmitted from parents to
disease the offspring when both parents are carried
It is due to defect in either red or green (Heterozygous)
cone of eye resulting in failure to
discriminate between red and green
colour
This defect is due to mutation in certain
gene present in the X- Chromosome
The genotypes are
 Pedigree analysis-Sickle cell anaemia
4.SICKLE CELL ANAEMIA
This is an autosome linked recessive
trait
this can be transmitted from parents to the
offspring when both the partners are
carrier for the gene (or heterozygous).
The disease is controlled by a single pair of
allele, HbA and HbS .
Genotypes are
Normal HbA HbA
Carrier HbAHbS 5.THALASSEMIA
Affected HbsHbs This is the autosomal recessive trait.:
This disease is transmitted from parents to The genotypes are
the offspring when both parents are carried Normal AA
(Heterozygous) Carrier Aa
The defect is caused by the substitution of Affected aa
Glutamic acid (Glu) by Valine (Val) at the This disease is transmitted from parents to
sixth position of the beta globin chain of the the offspring when both parents are carried
haemoglobin molecule. (Heterozygous)
The substitution of amino acid in the globin
protein results due to the single base
substitution at the sixth codon of the beta
globin gene from GAG to GUG.
The mutant haemoglobin molecule
undergoes polymerisation under low
oxygen tension causing the change in the Here , production of globin chain is affected.
shape of the RBC from biconcave disc to This causes the formation of abnormal Hb
elongated sickle like structure resulting in to anaemeia
Thalassemia can be classified according to
which chain is affected
a)α-thalassemia
b)β-Thalassemia

a )α -thalassemia
Here production of alpha globin chain is
affected
α-thalassemia is controlled by 2 closely
linked gene-HBA-1, and HBA-2
these genes are located on the chromosome
number 16 of each parent
Mutation or deletion of one or more genes
result alpha thalassemia
The more gene is affected , less alpha globin
molecule is produced
 b)β-Thalassemia
Here production of Beta globin chain is i) Down’s Syndrome (45+XX or 45A+XY)
affected This is due to an additional copy of the
α-thalassemia is controlled by a single gene chromosome number 21 (trisomy of 21).
HBB gene. This disorder was first described by
this genes are located on the chromosome Langdon Down (1866).
number 11 of each parent Symptoms
Mutation or deletion of one or both genes The affected individual is
result Beta thalassemia short statured
with small round head,
Thalassemia differs from sickle-cell anaemia in with furrowed tongue and
that the Thalassemia is a quantitative problem of with partially open mouth
synthesizing too few globin molecules while the Their Palm is broad with characteristic
sickle cell anaemia is a qualitative problem of palm crease.
synthesizing an incorrectly functioning globin. Physical, psychomotor and mental
development is retarded.

6.MYOTONIC DYSTROPHY
This is an autosomal dominant trait

Pedigree analysis-Myotonic
dystrophy

ii) Klinefel ter’s Sy ndr ome (44A+XXY)

B)chromosomal dissorder This genetic disorder is also caused due to
It is due to absence or excess or the presence of an additional copy of X-
abnormal arrangement of one or more chromosome resulting into a karyotype of
chromosome 47, XXY.

This is due to fetilisation of an abnormal

egg (Containing XX) with sperm containing
‘Y’ chromosome .

Symptom
Such an individual has overall masculine
development , however, the feminine

Remya Notes
 development (development of breast, i.e.,  The modified allele responsible for
Gynaecomastia) is also expressed . Such production of
individuals are sterile i)ormal or less efficient enzyme
ii)A non functional enzyme
iii)No enzyme at all
 In the first case, the modified allele
produce same phenotype like
unmodified allele, so it become
dominant
 In the 2nd and 3rd case, the phenotype
will depend only on the functioning of
un modified allele.
Ie:Modified allele become recessive

Klinfelter’s syndrome

iii) T ur ner ’s Sy ndr ome : (44A+XO)

It is due to the absence of one of the X
chromosomes, i.e., 45 with X0,
Symptoms
Such females are
sterile as ovaries are rudimentary
lack of other secondary sexual characters

Turner’s syndrome
Concept of Dominance
 In heterozygous conditions (Tt), there are
dominant and recessive alleles.
 The normal allele (functioning allele or
unmodified allele )of a gene produce a
normal enzyme that is needed for
transformation of substrate into product
Previous year question paper

8. Observe the following cross between

1. "The sex of the baby is determined by the father heterozygous dominant progeny and homozygous
and not by the mother. Do you agree with this recessive parent. Answer the following questions
statement? Substantiate your answer (2) (2)
2. Find the odd one out. Justify your answer.
Down's syndrome, Turner's syndrome,
pheny ketonuria, klinfelter’s syndrome (2)
3. The amino acid composition of the relevant
portion of β chain molecules (A & B) are shown
below. (3)

a) Identify the cross?

b) Mention the significance of this cross?
a)Which one of the polypeptide chain is abnormal ? 9. The following diagram shows amino acid
b) Name the disorder caused by it ? sequences of a part of β chain of haemoglobin of
c) What is the reason for this abnormality? 2 individuals. Observe the amino acid sequence
d)what is the effect of this abnormality in such and answer the following questions : (2)
individual ?

4. crossing of an Fi hybrid into its recessive parent is

called (1)
a) Back cross b) Test cross e) co dominance
d) Incomplete dominance
5. Drosophila is an ideal material for genetic study.
Give 2 reasons. (2) a)which among the above indicate sickle cell
6. Observe the symbols below anemic condition ?
b) justify your answer ?
c) describe what is single base substitution ?
10. The blood group of a child is 'O'. His father is with
'A' blood group and mother with ‘B' blood group.
a)Identify a and b (1) Write, down the genotype of the child and
b)What is the use of these symbols in genotypes of parents. (2)
genetics? (1)
7. The genetic disorder is caused due to the
presence of an additional copy of X Chromosome
1. ln a classroom discussion, a student said that the
a)Name this disorder
sex of the baby is determined by father. Analyze
b) Write the Karyotype of this disorder the statement and give reason for it ? (2)
c)Suggest any other characteristic feature of this 2.
disorder. (3)
 7. Observe the diagrammatic representation of
following pedigree analysis and answer the
question. (3)

a)Describe the type of inheritance shown in the

a)Observe the above cross and name this diagram
phenomenon? b)Distinguish between Mendelian disorder and
b)Write down the theoretically given chromosomal disorder with example?
explanation of the phenomenon (2)
3. Haemophilia, Sickle cell anaemia and Phenyl 8. Observe the following diagram and answer the
Ketonurea are Mendelian disorders question (Hint: step in making a cross in pea plant
(a)What do you mean by mendelian disorder (2)
(b)which one of the above is an example of in
born error of metabolism? Mention the cause
of disorder? (2)
4. Construct a monohybrid cross between
homozygous violet and white coloured flowers of
a pea plant How can one determine whether the
F1 Progenies are homozygous or heterozygous?
(2)
5. From a clinical laboratory, Ramu's blood group
was identified as 'AB' goup. But his father has 'A'
blood group and mother has is 'B’ blood group.
a) Is Ramu's blood group identification correct?
b) Substantiate your answer using co dominance a)Name the process marked as A and writes its
significance?
principle. (2) b)Diagrammatically represent a monohybrid
6. Identify the syndromes ’A' and 'B' (2) cross between Tall and dwarf pea plant

9. The following table shows the F2 generation

of a Dihybrid cross. Identify the phenotype
with homozygous recessive genotype. Find
out A:B:C:D (2)
10. Which of the following do not have similar sex
chromosome? (homogametic ) (1)
(1) Human female
14. Which of the following is not a Mendelian
(2) Drosophila female disorder (1)
(3) Bird female Colourblindness, Down's syndrome,
(4) Bird male Haemophilia, Thalassemia
15. Study the following cross and answer the
11. Examine the following fragment of beta globin questions.
chain in human haemoglobin and identify the [Hint: ABO blood group in man is controlled
hereditary disease with reason by three alleles IA, IB and i.]
(2)

12. Observe the figure below and answer the

question following : (2)

a)Write the genotypes of Father, Mother and

Son.
b)The type of dominance of human blood
group inheritance is………………… (2)
16. Observe the figure and answer the question
(2)

a)Identify the figure?

b)what show the shaded symbols used?
13. a)Complete the flow chart of chromosomal
disorder by filling the blank boxes (A and B)
(3)

a) Identify the syndromes A and B.?

b) What is the chromosome numbers in A and
B?

17. Diagrammatic representation of the pedigree

analysis of the inheritance of sickle cell
anaemia is shown below. (3)

b)What is aneuploidy ?
 a)Name the type of inheritance shown in the
figure ?
b) Write the genotype of A and B? 22. Correct the amino acid sequence of sickle cell
(Hint : Disease is controlled by a pair of hamemoglobin (1)
allele HbA and Hbs )
c)epresent pedigree analysis of an X linked
Recessive Inheritance diagrammatically
18. Observe the inheritance shown in A and B 23. Identify they syndrome from the genotype given
below: (1)
a)44 Autosome + XXY
b) 44 Autosome +XO
24. Sex of the Baby is determined by the father, not
by the mother. Substantiate (2)
25. a)Define mutation (1)
b)What are the different types of mutation? (1)
26. The family of Queen Victoria shows a number of
Haemophilic descendants as she was the carrier
of the disease. Name the pattern of inheritance of
a)Name the type of inheritance shown in A this Royal disease. (1)
and B? 27. a)Paternity or maternity can be determined by
b)What is the difference between the two certain scientific methods. What is it? Define
types of inheritance? (2) b)Briefly write the methodology involved in the
technique ?
c)comment on its other application (3)
19.

28. Explain the phenomenon shown in the following

figure and the reason for difference in the
production of recombinant in Cross A and cross B
as explained by Morgan. (3)

a)Identify the syndrome from the diagram, and

write the genotype?
b)t occurs in both sexes (Male and female)? Write
the reason (2)
20. Fill in the blanks: (1)
a)...............is a metabolic disorder that occurs due
to the lack of an enzyme, that converts phenyl
alanine to tyrosine.
b)...............is a disease caused by the substitution
of glutamic acid by valine at the 6th position

21. It is evident that, it is the genetic make of a sperm

that determine the sex of the child in human 29. Difference in chromosome number of some
beings. Substantiate (2) human being A,B,C, and D is given below:
A)22 pairs of Autosome
 B)22 pairs of Autosome +XO
C)22 pairs of Autosome+ 1 autosome
D)22 pairs of Autosome+ XXY 34. Diagrammatic representation of chromosome
a) Identify the person with who suffers from map of Drosophila is given below (2)
Klinfelter’s syndrome. Write its symptoms
b)Differentiate between aneuploidy and
polyploidy ? (3)
30. Gopalan argues that if the father is of ‘A’ blood Y- Yellow
group, Mother is of ‘B’ blood group. Their children
W- White
can be only be ‘A’ group, ‘B’ group or ‘AB’ group.
a) Do you agree with Gopalan’s arguement? M- Miniature
b) Give reason for your argument? (2) a)Which genes are more linked?
b)Who mapped chromosome firstly?
CBSE--2013 c)Tightly linked genes show low recombination. Why?
35. Work of a student is given below: (3)
31. In the given pedigree the shaded figure denotes
individuals expressing a specific trait (2)

Which of the following is the most probable mode a) From the above give an example for genotype
of inheritance of this trait and phenotype?
A-Simple mendalian recessive inheritance b) Complete the work using the punnet square
B-Co dominant Relationship of a single pair of and find out the phenotypic ratio in the F2
allele generation?
C-X linked recessive transmission
D-X linked dominant transmission
E-Polygenic inheritance
36. Complete the tale using suitable term (2)

Turner’s syndrome ..........a........

Sterile female
32. Identify the trait from pedigree chart. Give one ---------b-------- 44A+XXY ..........c.........
example each. (2) --------d--------- Trisomy-21 Mental
retardation
37. In Pea plant the gene for yellow seed colour is
dominant over green and round seed shape is
dominant over wrinkled. Write the four types of
gametes formed in heterozygous pea plant with
Yellow and round seeds (YyRr) (1)
33. A poultry farm manager was cursing his hens for 38. The first child of a couple is affected with
Phenyketonuria. During the second pregnancy
producing lion share of cocks in its progeny.
they visited a genetic counsellor and Prepared a
Hearing this, Kumar-farm manager starts to lame
pedigree chart of their family. (2)
his wife for delivering consecutive girl children.
a)What is pedigree analysis?
Analyse the situation scientifically and state
whether you agree with kumar? (3) b)Draw the symbols for
i)Affected female
ii)ex unspecified
iii)Consanguineous mating
 43. After analyzing the karyotype of a short statured
Round headed person with mental retardation, a
39. Symbols used in human pedigree analysis and general physician noticed an addition of
their meanings are provided in the table. Fill in autosomal chromosome .
the blanks with suitable meaning or symbols (1) Answer the following question (2)
a)Addition or deletion of chromosome generally
result in.............
b)What may be the possible syndrome or disorder
of the above person should suspected to be?
c)Suggest two or more morphological peculiarity
to confirm the chromosome disorder in that
person?
44. A couple has 2 daughters. The blood group of
husband and wife is O (2)
a)What is possible blood groups of the children
should have?
40. Certain facts related to human disorder are given: b)hether any change in blood group will occur if
1)It is inborn error in metabolism they have two sons instead of daughters?
2)It is inherited as an autosomal recessive trait
3)The affected person is mentally retarded
a)name the disorder
b)What are the physiological processes behind
45. Some genetic abnormalities, their genotype and
this mental retardation (2) features are distributed in Column A,B and C
41. A genetic cross is represented below (2) respectively . Match them correctly (1.5 mark)
Column A Column B Column B
Down’s 44A+XO Rudimentary
syndrome ovary and
sterility
Turner’s 44A+XXY Furrowed
syndrome tongue and
partially opened
mouth
Klinfelter’s 45A+XX/XY Gynaecomastia
syndrome and sterility
a) Identify the given cross?
b) Elaborate upon the significance of such cross? 46. The flow chart A and B given below represents the
inheritance of normal haemoglobin and sickle cell
haemoglobin (3.5)

42. The frequency of occurring Royal disease or

Haemophilia is high in the pedigree of Royal
families of Queen Victoria. Which of the following
cannot be generally inferred from this? (1)
a)Queen Victoria was not homozygous for the
disease
b)any heterozygous families were there in the
Royal family
c)Non-Royal families were not affected with
haemophilia a) Observe the Flow chart A and complete the
d)here is less possibility to become a female flow chart B
diseased
b) Note down the genotype of a sickle cell
e)Generally a diseased female cannot survive
anaemia patient and mention the symptom of
after the first menstruation
the disease
f)Pedigree analysis is the study of inheritance
c) Mention the peculiarity of HbAHBs phenotype
patterns of traits in human female.
47. To find out the unknown genotype of a violet
flowered pea plant a researcher done the
flowering cross. Observe the diagram and answer
the following question:
(Hint :Violet flower colour in pea plant is
dominant over white )

a)What would be the above cross called?

b)can you determine the unknown genotype of
violet flowered parent by drawing Punnet square?
48. Polypeptide chains of two haemoglobin molecules
are shown below. One of the chains shows an
abnormality. Observe the diagram and answer the
following questions

a) Which of the polypeptide chain in the

haemoglobin is abnormal leading to a disease?
b)What is the reason for this abnormality ? c)What
will be the effect of this change in
polypeptide chain ?