C H A P T E R UNIT-VII: GENETICS AND EVOLUTION

4 PRINCIPLES OF INHERITANCE AND

VARIATION

Learning Objectives
Students will be able to learn about
 Concepts of heredity and variation and its related concepts.
List of Topics
 Chromosomal theory and its variants. Topic-1: Mendel Laws and Chromosomal
theory�������������������������������������������������
 Various methods of sex determination in different organisms.
Topic-2 : Sex Determination and
 Mendelian and chromosomal disorders. Chromosomal Disorder����������������������

TOPIC-1 M endel's Laws and Chromosomal Theory

Concepts Covered:
 Heredity, variation  Mendel's laws of Inheritance  Non-Mendelian inheritance  Chromosomal theory  Linkage and
Recombination.

Revision Notes  e.g., Mendel crossed tall and dwarf pea plants to study
the inheritance of one gene. [Board 2020, 19, 18]
Introduction  Steps in Making a Cross of Pea:
 Heredity (L. Hereditas - heirship or inheritance): It is
 Selection of two pea plants with contrasting characters.
the sum of all biological processes by which particular  Removal of anthers (emasculation) of one plant to avoid
characteristics are passed on from parents to their self- pollination. This is a female parent now.
offspring, either through asexual or sexual reproduction.
 Collection of pollen grains from the other plant (male
 Variation: Tendency of differences in various traits of
parent) and transfer to female parent for pollination.
individuals of a progeny from one another and their  Collection of seeds and production of offspring.
parents.
 Mendel made similar observations for other pairs of
Mendel's Laws of Inheritance: traits and proposed that factors were inherited from
 
Hybridization Experiments on Garden Pea (Pisum parent to offspring. Later, these factors were called
sativum) genes.
 Mendel selected 7 pairs of contrasting traits of true  The F1 generation (Tt) when self-pollinated, produces
breeding pea varieties. gametes T and t in equal proportion.
 Mendel self-pollinated the F2 generation plants.
S. No. Characters Dominant Recessive
 He found that dwarf F2 plants continued to generate
1. Height of the Tall (T) Dwarf (t) dwarf plants in F3 & F4 generation.
stem  He concluded that the genotype of the dwarf was
2. Colour of the Violet/ White (r) homozygous- tt.
flower Red (R)  Monohybrid Phenotypic Ratio: 3 Tall : 1 Dwarf = 3 : 1
 Monohybrid Genotypic Ratio:
3. Position of the Axial (A) Terminal (a)
flower 1 Homozygous tall (TT) : 2 Heterozygous tall (Tt) : 1
Homozygous dwarf (tt)
4. Shape of pod Full/ Constricted (i)  Back cross and Test cross
Inflated (I)
 Back cross: Crossing of F1 hybrid with either of its
5. Colour of pod Green (G) Yellow (g) parent.
6. Shape of seed Round (R) Wrinkled (r)  Test cross: Crossing of an F1 hybrid with its recessive
parent (Test cross ratio=1:1). It is used to find out the
7. Colour Yellow (Y) Green (y) unknown genotype. Mendel conducted a test cross to
of seed/ determine the F2 genotype. [Board 2020, 19, 18]
cotyledons Mendel’s Principles or Laws of Inheritance:
Inheritance of One Gene 1. Principle of Dominance [Delhi Set-1, 2020]
 Monohybrid Cross: • Characters are controlled by discrete units called
 A cross involving two plants differing in one pair of factors.
contrasting characters. • Factors occur in pairs.
 BIOLOGY, Class-XII

• In a dissimilar pair of factors or contrasting alleles Example: Imagine a hypothetical gene, let's call it "C,"
i.e., in heterozygous condition, only one member of that controls both the color of a cat's fur and the length
the pair expresses its effect in the of its tail. The gene can have two variants: C1 for short
hybrid and is called dominant tails and black fur, and C2 for long tails and white fur.
while the manifestation of the other Genotype 1 (C1C1): Cats with this genotype have short
is masked and is called recessive. tails and black fur.
2. Law of Segregation Genotype 2 (C2C2): Cats with this genotype have long
This law states that allelic pairs tails and white fur.
separate or segregate during gamete Now, let's say that the gene C exhibits pleiotropy,
formation and randomly unite at influencing both tail length and coat colour. In this
fertilisation, thus homozygous parent produces similar example, a single gene is affecting two seemingly
gametes. Heterozygous parent produces two kinds of unrelated traits.
gametes, each having one allele in equal proportion. This simple scenario illustrates the concept of
 Non-Mendelian Inheritance pleiotropy, where one gene has multiple effects
(a) Incomplete Dominance on different aspects of the organism's phenotype.
• It is an inheritance in which Pleiotropy is a common occurrence in genetics and it
heterozygous offspring shows an helps to highlight the complexity of gene interactions
intermediate character between and their impact on the overall characteristics of an
two parental characteristics. organism.
e.g., Flower colour in Snapdragon 3. Mendel's Law of Independent Assortment:
(dog flower or Antirrhinum sp.) and [Board 2019]
Mirabilis jalapa (4’O Clock plant).

• It states that when more than one pair of characters
• Here, phenotypic and genotypic ratios are the same. are involved in a cross, the segregation of one pair
• Phenotypic ratio = 1 Red : 2 Pink : 1 White of contrasting characters is independent of the
• Genotypic ratio = 1 (RR) : 2 (Rr) : 1(rr) segregation of other pair of contrasting characters
• This means that R was not completely dominant over r. and also that new recombinations of
(b) Co-dominance characters along with the parental
• It is the inheritance in which both alleles of a type also appear in the F2 generation.
gene are expressed equally and independently Example: Let us use the genotypic
in a hybrid i.e., both the alleles are dominant symbols Y for dominant yellow
e.g., ABO blood grouping in humans. seed colour and y for recessive
• ABO blood groups are controlled by the gene. green seed colour, R for round
• The gene (I) has three alleles IA, IB and i. However, a shaped seeds and r for wrinkled seed shape. The
person can have any two of these three alleles. IA and genotype of the parents can then be written as RRYY
IB both are dominant alleles while i is a recessive allele. and rryy. The cross between the two plants can be
• The alleles IA and IB produce antigen A and antigen B written down as in Figure 4.7 showing the genotypes
respectively on the RBC surface while allele i doesn’t of the parent plants. The gametes RY and ry unite
produce any antigen. on fertilisation to produce the F1 hybrid RrYy. When
• When IA and IB are present together they both express Mendel self hybridised the F1 plants he found that
their types of surface antigen A and B. This is due to 3/4th of F2 plants had yellow seeds and 1/4th had green.
co-dominance. The yellow and green colour segregated in a 3:1 ratio.
(c) Multiple Allelism Round and wrinkled seed shape also segregated in a
• Here, more than two alleles govern the same character. 3:1 ratio; just like in a monohybrid cross.
• Since in an individual, only two alleles are present,  Chromosomal Theory (1902)
multiple alleles can be found only when population  The Chromosomal theory was proposed independently
studies are made e.g., ABO blood grouping by Walter Sutton and Theodore Boveri in 1902.
(3 alleles: IA, IB and i). The skin colour and height of  Walter Sutton and Theodore Boveri proposed that
humans are also examples of multiple alleles. the pairing and separation of a pair of chromosomes
(d) Pleiotropy during meiosis lead to the segregation of pair of factors.
• Pleiotropy is the phenomenon in which one gene  Sutton united chromosomal segregation with
controls many traits. For example, the gene in pea Mendelian principles and called it the Chromosomal
plants that controls the round and wrinkled texture Theory of Inheritance.
of seeds also influences the phenotypic expression of
 It states that:
starch grain size.
(a) Chromosomes are vehicles of heredity i.e., they are
• So, if the starch grain size is considered as the phenotype,
transmitted from parents to offspring.
then from this angle, the alleles show incomplete
dominance. (b) Two identical chromosomes form a homologous pair.
• Therefore, dominance is not an autonomous feature Genes are present in a linear fashion on chromosomes.
of a gene or the product that it has information for. (c) They segregate at the time of gamete formation.
It depends as much on the gene product and the (d) Independent pairs segregate independently of each
production of a particular phenotype. other.
(e) Chromosomes are mutable.
Principles of Inheritance and Variation

P generation

Round yellow Wrinkled green

RR YY rr yy

Gametes RY ry

Round yellow
F1 generation Rr Yy
Selfing

RY RY

Gametes rY rY Gametes

Ry Ry

ry ry

F2 generation

Phenotypic ratio : round yellow : round green : wrinkled yellow : wrinkled green
9 3 3 1

(f) Sex chromosomes determine the sex of an individual.  Fusion of two (male and female) gametes brings about
 Parallelism between Genes (Mendelian factors) and the diploid chromosome number as well as the allelic
Chromosomes: pairs in the offsprings.
 Mendelian factors as well as  Thomas Hunt Morgan proved the Chromosomal
chromosomes are transferred from Theory of Inheritance using fruit flies (Drosophila
generation to generation. melanogaster).
 The chromosomes occurs in He took fruit flies as a suitable material because:
homologous pairs. The genes also (a) It breeds very quickly.
occurs in pairs (allelic pairs). (b) Short generation time (life cycle: 12–14 days).
 Both chromosomes and genes (c) Breeding can be done throughout the year.
segregate at the time of gamete (d) Hundreds of progenies are produced per mating.
formation in such a way that gametes receive only one (e) They can grow on a simple synthetic medium.
chromosome and similarly one allele of each pair.
(f) Male and female flies are easily distinguishable.
 Different pairs of chromosomes segregate indepen
 Linkage and Recombination
­
dently of each other. Similarly, one pair of alleles
segregates independently of another pair.  Recombination: It is a process by which pieces of
 BIOLOGY, Class-XII

DNA are broken and recombined to produce a new to its haploid number of chromosomes or number of
combination of alleles. homologous pairs in diploid organisms.
 Linkage: Physical association of two or more genes on  Alfred Sturtevant used the recombination frequency
a chromosome, which show the tendency to inherit between gene pairs as a measure of the distance
together. They do not show independent assortment. between genes and ‘mapped’ their position on the
 Morgan et al. crossed yellow body and white eyed chromosome.
females with wild type brown body and red-eyed  Recombination frequency or the cross over value (COV)
males and inter-crossed F1 offsprings. He found that can be calculated by the following formula.
the two genes did not segregate independently, Number of recombinants
resulted in deviation from normal dihybrid ratio 9 : 3 : 3 COV = × 100
Total number of offsprings
: 1 in F2 generation because the appearance of parental
combinations were higher than the non-parental and  Genetic maps are used as a starting point in the
new recombinations. sequencing of genomes as was done in Human
 Morgan further carried out several dihybrid test crosses Genome Project.
in Drosophila to study sex-linked genes.
Cross A: Double recessive, yellow-bodied, white-eyed
MNEMONICS
Concept: Non-Mendelian Inheritance
females (yw/yw) X hybrid brown-bodied, red-eyed
Mnemonics: I Care Mendel's Principles.
males (Y'W'/YW) (wild type). Interpretations: Incomplete dominance, Co-dominance,
Cross B: Double recessive, white-eyed, miniature Multiple alleles, Pleiotropy
winged (wm/wm) X hybrid red eyed, large winged
(W'm/Wm) (wild type). KEY-TERMS
 Morgan in the above crosses found that: Alleles or allelomorphs: A pair of Mendelian factors or genes
(a) The two genes did not segregate independently of located on the same locus of two homologous chromosomes
each other and the F2 ratio deviated from the 9 : 3 : 3 : 1 of an individual which control the expression of a trait or
ratio. character are called alleles or allelomorphs.
(b) Genes were located on the X chromosome. F1 generation: Hybrids Produced from a cross between
(c) When two genes were situated on the same the genetically different individuals called parents. e.g.,
chromosome, the proportion of parental gene Tt individuals are produced in F1 generation from a cross
combinations was much higher than the non-parental between TT and tt parents.
type. This is due to linkage. F2 generation: It is the generation of individuals which
(d) Genes for white and yellow were very tightly linked arises as a result of interbreeding or selfing amongst
and showed only 1.3% new recombination while white individuals of F1 generation.
and miniature wings showed 37.2% recombination
Genotype: (Gk. Geno-race, typos — image). It is the
(loosely linked).
genetic constitution of individual with regard to one or
(e) Tightly linked genes show low recombination.
more characters irrespective that whether the genes are
(f) Loosely linked genes show high recombination.
expressed or not, for e.g., genotype of hybrid tall pea plant
The strength of linkage is inversely proportional to the is Tt, pure tall TT and pure dwarf tt.
distance between two linked genes. Thus, the linkage
Phenotype: (Gk. Pheno — to appear, typos — image): It is
between y & w alleles is stronger than the linkage
observable or measurable distinctive structural or functional
between w & m alleles.
characteristic of an individual. e.g., phenotypic tall pea plant
 Linkage groups: All the genes present together on a
single chromosome make up a linkage group. The can be genotypically TT or Tt.
total number of linkage groups in an organism is equal

Example-1
Q. In a garden pea plant, the flowers may be axial (A) position. Find out the proportion of terminal (a) in position.
Find out the proportion the offspring in the following crosses would be expected to be terminal in position.
(i) Aa ×Aa (ii) AA ×Aa
(ii)


Sol. (i)

None of the offspring is terminal in position

25 percent of the offspring are terminal in position
Principles of Inheritance and Variation

SUBJECTIVE TYPE QUESTIONS

Very Short Answer Type Questions  (1 mark each)
2. Name the pattern of inheritance where F1 phenotype:
1. A Snapdragon plant with violet flowers was crossed
(a) resembles only one of the two parents.
with another such plant with white flowers. The
(b) does not resemble either of the two parents and is
F1 progeny obtained had pink flowers. Explain, in in between the two. [OEB] K


brief, the inheritance pattern seen in offsprings of
Topper's Answer, 2019
the F1 generation ? Ap [SQP 2020-21]

Concept Applied Law of segregation

Ans. The inheritance is an example of incomplete
dominance. In this, a new intermediate phenotype
between the two original phenotypes is obtained. 3. British geneticist R.C. Punnet developed a
One allele for a specific trait is not completely graphical representation of a genetic cross called
expressed over the other allele for the same trait. 1 "Punnet Square". Mention the possible result this
reproduction predicts of the genetic cross carried.
U [Delhi Set-1, 2019]


4. Name the type of cross that would help to find the genotype of a pea plant bearing violet flowers.
U [Outside Delhi Set-1, 2017]

Ans. Test cross [Marking Scheme OD, 2017] 1

OR
Topper's Answer, 2017

5. On what basis is the skin colour in humans Parents IA IA IB IB

considered polygenic? Gametes IA IB
U [Outside Delhi Comptt. Set-2, 2015]
F1 - IAIB

OR
Short Answer Type Questions-I (2 marks each)
In human red blood cells, alleles IA and IB of gene
1. State the Mendelian principle which can be derived I are both dominant, when IA & IB are present
from a dihybrid cross and not from monohybrid together in an individual both are expressed as IA
cross. K [SQP 2018-19] IB, (AB blood group). ½×4=2
[Marking Scheme OD, 2017]
Ans. From the dihybrid cross, the law of independent
assortment can be derived which states that
4. A true breeding pea plant, homozygous dominant
when two pairs of traits are combined in a
for with constricted yellow pods (ffgg). With the
hybrid, segregation of one pair of characters is help of inflated green pods is crossed with another
independent of the other pair of characters. 1+1 pea plant punnett square show the above cross and

[Marking Scheme SQP 2018-19] mention the results obtained phenotypically and
2. Name the Scientists and write how did they genotypically in F1 generation? U [SQP 2022-23]

explain Mendel's laws after the chromosomes were Ans.
discovered. U [Delhi Set-2, 2020]

3. ABO blood group is a good example of co-
dominance. Justify. K
[Outside Delhi Comptt. Set-1, 2, 3, 2017]

Ans. When the dominant alleles of the same gene which
are contributed by both parents are expressed
(called co-dominance) F1 generation resembles both
the parents:
In human blood group: Making the correct punnett square

This Question is for practice and its solution is given at the end of the chapter.
 ,

Phenotype -All Inflated green pods 2. You are asked to find the genotypes of a tall pea
Genotype -FfGg plant growing in your school garden. Name the
5. (a) State ONE point of difference between a cross and explain how would you confirm the
monohybrid cross and a test cross. genotypes. U [Delhi Set-2, 2020]
(b) What is/are the possible genotypic ratio/s in a
test cross? U [CFPQ]
Concept Applied Law of segregation
Ans. (a) Ans. The genotypes of a tall pea plant growing in our
• Monohybrid cross takes place between two parents school garden can be found by test cross. A test
of any genotype whereas in a test cross one parent cross is a cross between an organism with unknown
is necessarily homozygous recessive for a/multiple
genotype and a recessive parent. It is used to
trait/s.
determine whether the individual is homozygous
• Monohybrid cross between known parents is done
to determine the pattern of inheritance of one single or heterozygous for a trait. For e.g., It is used to
gene whereas a test cross is done to determine the determine if tallness is coming from TT or Tt.
unknown genotype of one individual/parent of the Case I: When TT is crossed with tt, we obtain all Tt
cross. Any one (tall) individuals in the progeny.

(b) Case II: When Tt is crossed with tt, we obtain all Tt
• All heterozygous dominant, if the unknown (Tall) and tt (dwarf) individuals in the progeny.
genotype is homozygous dominant
Therefore, if tallness is coming from TT, then we
• 1:1 (heterozygous dominant: homozygous recessive)
obtain all tall progenies in test cross. We obtain both
if the unknown genotype is heterozygous dominant.
tall and dwarf varieties in test cross, if tallness is
Short Answer Type Questions-II  (3 marks each) coming from Tt. 1+2
1. State Mendel's law of dominance. How did he 3. Compare in any three ways the chromosomal
deduce the law? Explain with the help of a suitable theory of inheritance as proposed by Sutton and
example. K [Delhi Set-1, 2020] Boveri with that of experimental results on pea
Ans. Law of Dominance: It states that characters are plant presented by Mendel. U [Delhi Set-1, 2019]
controlled by discrete units called factors, which
occur in pairs. It states that a dominant allele expresses Ans.
itself in a monohybrid cross and suppresses the Sutton and Boveri Mendel
expression of recessive allele. However, this recessive
1. Chromosomes occur in 1. Factors occur in pairs.
allele for a character is not lost and remains hidden pairs.
or masked in the progenies of the F1 generation and
reappears in the next generation. This law explains 2. Chromosomes segregate 2. 
Factors segregate at
at the time of gamete the gamete formation
the expression of only one of the parental character
formation such that stage and only one of
in the F1 generation and the expression of both in the only one of each pair is each pair is transmitted
F2 generation. For e.g., When pea plants with round transmitted to a gamete. to a gamete.
seeds (RR) are crossed with plants with wrinkled
3. 
Independent pairs of 3. One pair of factors seg-
seed (rr), all seeds in the F1 generation were found
chromosomes segregate regate independently
to be round (Rr). When these round seeds were
independently of each of another pair.
self-fertilized, both the round and wrinkled seeds other.
appeared in F2 generation in 3 : 1 ratio. Hence, in
F1 generation the dominant characters (round seed) 1 × 3 = 3 [Marking Scheme Delhi, 2019]
appeared and the recessive character (wrinkled
4. (a) Explain linkage and recombination as put forth
seeds) got suppressed, which reappeared in F2.
by T. H. Morgan based on his observations with
Drosophila melanogaster crossing experiment.
(b) Write the basis on which Alfred Sturtevant explained
gene mapping. A [Delhi Set-1, 2019]

Ans. (a) Linkage: Physical association of genes on a

chromosome,
• Two genes did not segregate independently of each
other.
• F2 (phenotypic) ratio deviates (significantly) from
9 : 3 : 3 : 1 (Any two) ½ × 2
• Recombination: Tightly linked genes tend to show
fewer recombinant frequency / 1.3% ½
• Loosely linked genes show a higher percentage of
 1+2 recombinant frequency / 37.2%  ½
Principles of Inheritance and Variation

(b) He used the frequency of recombination between

gene pairs on the same chromosome as a measure of
distance between genes and mapped their position on
the chromosome. 1 [2 + 1 = 3 marks] P generation
[Marking Scheme Delhi, 2019]

Red (RR) White (rr)
5. Differentiate between Dominance, Incomplete
dominance and co-dominance with the help of a
suitable example of each.
Gametes R r
K [Outside Delhi Set-2, 2020]

Long Answer Type Questions (5 marks each)
1. Differentiate between incomplete dominance and
co-dominance. Substantiate your answer with one
F1 generation
example of each. U [Delhi Set-1, 2019]

Ans. Incomplete dominance: It is a form of intermediate
All pink (Rr)
inheritance in which one allele for a specific trait is
not completely expressed over its paired allele. This
Gametes Gametes
results in a third phenotype in which the expressed R R
physical trait is a combination of the phenotypes of
r r
both alleles. RR
Examples of incomplete dominance can be given F2 generation
by inheritance of flower colour in the dog flower Rr Rr
(Snapdragon or Antirrhinum sp.)
rr
In a cross between true-breeding red-flowered (RR)
and true breeding white-flowered plants (rr), the F1
Phenotypic ratio : red : pink : white
progeny was pink (Rr). 1 : 2 : 1
When the F1 was self-pollinated the F2 resulted in Genotypic ratio : RR : Rr : rr

the ratio of 1 (RR) Red: 2 (Rr) Pink : 1 (rr) White. 1 : 2 : 1
Here, the genotype ratios were exactly as we would
expect in any Mendelian monohybrid cross, but Since there are three different alleles, there are six
the phenotype ratios had changed from the 3 : 1, different combinations of these three alleles that
dominant : recessive ratio. are possible and therefore, a total of six different
Since, R was not completely dominant over r, this genotypes of the human ABO blood types.
made it possible to distinguish Rr as pink from RR Allele Allele Genotype Blood
(red) and rr (white). from from of types of
Co-dominance: In co-dominance, a heterozygous Parent 1 Parent 2 offspring offspring
individual expresses both alleles simultaneously
IA IA IA IA A
without any blending.
ABO blood grouping in human beings is an example IA IB IA IB AB
of co-dominance.
IA i IA i A
ABO blood groups are controlled by the gene I.
The gene (I) has three alleles IA, IB and i. The alleles IB IA IA IB AB
IA and IB produce a slightly different form of the
IB IB IB IB B
sugar while allele i does not produce any sugar.
Because humans are diploid organisms, each person IB i IB i B
possesses any two of the three I gene alleles. IA and
i i ii O
IB are completely dominant over i, in other words
when IA and i are present, only IA expresses (because
2. (a) Why did T.H. Morgan select Drosophila mela-
I does not produce any sugar), and when IB and i are nogaster for his experiments?
present IB expresses. But when IA and IB are present (b) How did he disprove the Mendelian dihybrid
together they both express their own types of sugars. F2 phenotypic ratio of 9 : 3 : 3 : 1? Explain giving
This is because of co-dominance. reasons. U [Delhi Set-1, 2020]

This Question is for practice and its solution is given at the end of the chapter.
 ,

3. Describe the dihybrid cross upto F2 generation bearing green and wrinkled seeds. He found that
as conducted by Gregor Mendel using pure lines in some of the F2 population new combination of
of Garden Pea for characters seed shape and seed parental characters were observed.
colour. [SQP 2023-24] How will you explain the appearance of a new
OR combination of parental characters in F2- offsprings?
Mendel crossed a homozygous pea plant having Support your answer with the help of Punnett
yellow and round seeds with another pea plant square. E [Outside Delhi Set-1, 2019]

Ans:  1

2 marks for Punnett Square

    hen two pairs of traits are combined in a hybrid, segregation of one pair of character is independent of the
W
other pair of the characters. [Marking Scheme OD, 2019] 1

4. State and explain the ”law of independent

assortment” in a typical Mendelian dihybrid cross.
Concept Applied Mendalian inheritance
 U [Delhi Set-1, 2, 3, 2017, 11]

Ans. (i) Law of Independent Assortment: When two

pair of traits are combined in a hybrid, inheritance
of one pair of characters is independent of the other
pair of characters / when two pairs of contrasting
characters or genes or traits are inherited together
in a dihybrid cross (in a pea plant) the inheritance of
one pair of character is independent of inheritance
of the other character in the progeny.  1
Explanation: Mendel took homozygous pea plant
producing yellow and round seeds, crossed them
with homozygous pea plant producing green and
wrinkled seeds / shown in a flow chart of a dihybrid
cross given.
Principles of Inheritance and Variation

Phenotypes-Yellow : Yellow : Green : Green (ii) If the red and white coated cattles produce pink
round wrinkled round wrinkled colour on a cross then, they exhibit incomplete
F2 Phenotype ratio-9 : 3 : 3 : 1 dominance in the inheritance of coat colour due
(Four different types of phenotypes in correct ratio) to which they produce pink coloured coat upon
½+½ hybridisation.

(Formation of new phenotypes along with parental If pure breeding red coated cattles are represented
phenotypes is possible because inheritance of two as ‘RR’ and pure breeding white coated as ‘rr’, then
pairs of contrasting traits or genes in the progeny is the pink coated cattles are ‘Rr’.
independent of each other) 4+1=5 A cross between ‘RR’ and ‘rr’ would produce pink
[Marking Scheme Delhi, 2017] coated cattles (Rr) and white coated cattle (rr) in

the ratio of 1 : 2 : 1[Marking Scheme SQP, 2023-24]
5. In shorthorn cattle, the coat colours red or white are
controlled by a single pair of alleles. A calf which 6. (i) What is polygenic inheritance? Explain with the
receives the allele for red coat from its mother and help of suitable example.
the allele for white coat from its father is called a (ii) How are pleiotropy and Mendelian pattern of inher-
‘roan’. It has an equal number of red and white itance different from polygenic pattern of inherit-
hairs in its coat. ance? U [Outside Delhi Set-3, 2016]
(a) Is this an example of co-dominance or of incomplete Ans. (i) Polygenic inheritance is the inheritance of traits
dominance? that are produced by the combined effect of many
(b) Give a reason for your answer. genes. A polygenic trait is controlled by more than
(c) With the help of genetic cross explain what will be one pair of non-allelic genes and shows different
the consequent phenotype of the calf when types of phenotypes. For example, human skin
(i) red is dominant over white colour is an example of polygenic inheritance. It is
(ii) red is incompletely dominant. U [SQP 2023-24] caused by a pigment called melanin due to three
Ans. (a) Co-dominance ½ pairs of polygenes (A, B and C).
(b) Co-dominance is a condition in which two (ii) Mendelian inheritance refers to the expression of
different alleles for a genetic trait are expressed. monogenic traits i.e., gene expression is controlled by
Individuals receive one version of a gene, called an one gene. In a pair of alleles, the expression of the
allele, from each parent. ½ recessive gene is always masked by the expression of
(c) (i) If pure breeding red coated cattles are a dominant gene.
represented as ‘RR’ and pure breeding white Pleiotropy is the ability of a gene to have multiple
coated as ‘rr’. If Red is dominant over White. A phenotypic effects because it influences several
cross between ‘RR’ and ‘rr’ would produce red characters simultaneously.
coated cattles (RR) and white coated cattle (rr) in Polygenic inheritance, on the other hand, is a type
the ratio of 3: 1. of inheritance controlled by one or more genes in
Parents: which the dominant alleles have a cumulative effect
Gametes: with each dominant allele expressing a part or unit
RR (Red) X rr (White) of the trait, the full being shown only when all the
R r dominant alleles are present.
F1 generation- 3:1 2

TOPIC-2 S ex Determination and Chromosomal Disorder

Concepts Covered
 Sex determination  Mendelian disorders  chromosomal disorders.
Henking called this structure as the X body (later it was
Revision Notes 
called as X-chromosome).
 Sex determination  Mechanism of Sex Determination [Delhi Set 1, 2015]
The method by which the distinction between male


(i) Chromosomal sex determination: It is based on het-
and female is established in a species is called sex
erogamety i.e., the occurrence of two types of gametes
determination.
in one of the two sexes. It is of the following types:
 Sex of an individual is finalised at the time of zygote
formation. (a) XX-XO mechanism: Here, the male is heteroga-
 Autosomes and Sex chromosomes (allosomes) metic i.e., XO besides autosomes (gametes with X
 Autosomes are chromosomes other than sex and gametes without X) and female is homogametic
chromosomes. They contain genes that determine i.e., XX (all gametes are with X chromosomes).
somatic characteristics. (b) XX-XY mechanism: Male is heterogametic (X & Y) and
 Number of autosomes is the same in males and females. female is homogametic (X only). e.g., Human and Dros-
 Sex chromosomes (X and Y) are the chromosomes that ophila.
are involved in sex determination. (c) ZZ-ZW mechanism: Male is homogametic (ZZ) and fe-
 Henking (1891) studied spermatogenesis in some insects male is heterogametic (Z & W). e.g., Birds.
and observed that 50% of sperm received a nuclear (d) ZO-ZZ mechanism: Females have only Z-chromo-
structure after spermatogenesis, whereas the other somes besides autosomes and males have a pair of Z-
50% of sperms did not receive it. chromosomes e.g., Cockroaches.
 BIOLOGY, Class-XII

XX-XO & XX-XY mechanisms show male heterogamety. e.g., Haemophilia, Cystic fibrosis, Sickle-cell anaemia,
ZZ-ZW mechanism shows female heterogamety. Colour blindness, Phenylketonuria, Thalassaemia, etc.
Females have only Z chromosome besides autosomes • Mendelian disorders may be dominant or recessive.
and males have a pair of Z chromosome as seen in
cockroaches. MNEMONICS
Concept: Mendelian Disorders
Example-2 Mnemonics: Highlight The Concepts Clearly
Interpretations: Haemophilia, Thalassaemia, Cystic fibrosis,
Q. Show the process of sex-linked inheritance of Colour blindness.
colour blindness.
(a) If a colour-blind man (XCY) marries a girl with (a) Colour blindness [Board 2015]


normal vision (XX). Show the possibility of • It is a recessive sex-linked trait in which the eye fails to
normal boy and carrier girl. distinguish red and green colours.
Sol. • The normal gene and its recessive allele are carried by
X-chromosome.
• In female, colour blindness appear when both the sex
chromosomes carry the recessive gene.
(b) Haemophilia (Royal disease)
• Sex-linked recessive disease.
• In this, a protein involved in the blood clotting is
affected.
• A simple cut results in non-stop bleeding.
• The heterozygous female (carrier) for haemophilia
may transmit the disease to sons.
• The possibility of a female becoming a haemophilic
is very rare because mother has to be at least
carrier and the father should be haemophilic
Result shows that 50 percent offspring are girls and (inviable in the later stage of life).
they are carrier and 50 percent offspring are • Queen Victoria was the carrier of this disease. So her
boys but they are normal. family pedigree shows many haemophilic descendents.
(2) Chromosomal Disorders
 Sex Determination in Humans (XX-XY type)
• They are caused due to the absence or excess or
[Board 2020]
abnormal arrangement of one or more chromosomes.

 Human has 23 pairs of chromosomes (22 pairs are
autosomes and 1 pair is sex chromosome). • These are of two types namely,
 A pair of X-chromosome (XX) is present in the female, (a) Aneuploidy (b) Euploidy.
whereas the X and Y chromosome are present in male. (a) Aneuploidy [Board 2019]

 During spermatogenesis, males produce 2 types of • The gain or loss of chromosomes due to failure of
gametes i.e., 50% with X-chromosome and 50% with segregation of chromatids during cell division.
Y-chromosome. It includes,
 Females produce the only ovum with X-chromosome. (a) Nullisomy (2n-2): A complete homologous pair is lost
 There is an equal probability of fertilisation of the ovum from diploid set.
with the sperm carrying either the X or Y chromosome. (b) Monosomy (2n-1): One chromosome is lost from the
 The sperm determines whether the offspring will be diploid set.
male or female. (c) Trisomy (2n+1): One chromosome is added to the
(ii) Environmental Sex-determination: Determination of diploid set, so that one chromosome occurs in triplicate.
sex depends upon the environmental condition. (d) Tetrasomy (2n+2): Two chromosomes are added
Environmental factors like temperature, etc., determine to the diploid set, so that a chromosome is found in
whether the zygote will develop into male or female. quadrapulate.
e.g., In turtles and crocodile. (b) Polyploidy (Euploidy)
• It is an increase in the number of chromosomes sets
(iii) Genetic balance mechanism of sex determination: beyond the diploid X condition (2n).
The sex of the individual is decided by the ratio • This is often seen in plants.
of X-chromosome and autosome, as it is found in • Based on the number of chromosome sets, the
Drosophila. polyploid are of the following types: triploids (3n),
(iv) Cytoplasmic Sex-determination: Cytoplasmic or tetraploids (4n), pentaploids (5n), hexaploids (6n), etc.
fertility factor called as an F+ factor located in plasmid (a) Autopolyploidy: It is an increase in number of
determines the sex as it is found in some bacteria. the same genome. e.g., AAA (autotriploid), AAAA
 Genetic Disorders (autotetraploid), etc.
 There are two types of genetic disorders namely, (b) Allopolyploidy: It is the increase in
Mendelian disorders and Chromosomal disorders. the number of sets of chromosome
due to the coming together of
(1) Mendelian Disorders
diploid genomes of two or more than
• It is caused by alteration or mutation in a single gene. two individuals of different species.
• The pattern of inheritance of Mendelian disorders e.g., AABB, AABBDD. Bread wheat is
can be traced in a family by the pedigree analysis. allohexaploid (AABBDD). Triticale is
Principles of Inheritance and Variation

the man-made cereal formed by hybridisation between (c) Furrowed big tongue and partially open mouth.
durum, wheat and rye. It is allohexaploid. (d) Many “loops” on fingertips.
• Autoallopolyploidy: It is a kind of polyploidy (e) Palm is broad with characteristic palm crease.
where the genomes of two species come together
(f) Retarded physical, psychomotor & mental
in which one has double set of chromosomes.
development.
e.g., Helianthus tuber os us which is autoallohexaploid.
• Chromosomal aberrations: These are the changes in (g) Congenital heart disease.
morphology and structure of chromosome resulting in (b) Klinefelter’s Syndrome:
the change in number and sequence of genes on them [Board 2020]


without any change in ploidy. They are of the following • It is the presence of an additional copy of X-chromosome
types: in male.
1. Deletion: It is the loss of a terminal segment of • Genetic constitution: 44 A + XXY (i.e., 47
a chromosome or from within the chromosome chromosomes).
(interstitial segment) followed by a reunion of its
remaining parts. • Features:
2. Inversion: It is a change in a chromosome architecture (a) Overall masculine development however the feminine
due to breaking up, rotation through 180° of a segment development is also expressed. e.g., Development of
and its reunion so that sequence of genes is reversed in breast (Gynaecomastia).
the inverted region. (b) Sterile.
3. Duplication: It is a change in chromosome structure (c) Mentally retarded.
in which a part of a chromosome breaks up and unites (c) Turner’s Syndrome:
with another homologous chromosome. This process
• This is due to the absence of one of the X chromosomes
repeats the chromosome segments because the same
in female.
block of genes is present more than once in a haploid
component. • Genetic constitution: 44 A + XO (i.e., 45 chromosomes).
4. Translocation: It is a change in chromosome • Features:
architecture that is due to breaking up of segment (a) Sterile, Ovaries are rudimentary.
of chromosome and its union with another non- (b) Lack of other secondary sexual characters.
homologous chromosome. It may also be due to (c) Dwarf.
mutual exchange of chromosomal segments between (d) Mentally retarded.
non-homologous chromosomes.
 Examples for Chromosomal Disorders MNEMONICS
(a) Down’s Syndrome (Mongolism): Concept: Chromosomal Disorders
• It is the presence of an additional copy of chromosome Mnemonics: Dying to know
number 21 (trisomy of 21). Interpretations: Down's syndrome Turner's syndrome,
• Genetic constitution: 45 A + XX or 45 A + XY (i.e., 47 Klinefelter's syndrome
chromosomes).
• Features: KEY-TERM
(a) They are short-statured with small round head. Punnett, Batteson and other workers found Mendel’s work
(b) Broad flat face. as an universal application, including animals also.

SUBJECTIVE TYPE QUESTIONS

Very Short Answer Type Questions  (1 mark each) 4. Give an example of a human disorder that is caused
1. Differentiate between aneuploidy and polyploidy. due to a single gene mutation. 1
K [SQP 2020-21] K [Delhi Set-2, 2016]


Ans. Aneuploidy is a chromosomal abnormality in which 5. Give an example of a sex-linked recessive disorder
one or more chromosomes are gained or lost. Poly- in humans. K [Delhi Comptt. Set-2, 2016]

ploidy is when an entire extra set of chromosomes is
added. (It may be triploid or tetraploid) 1 Short Answer Type Questions (2 marks each)

2. Name a human genetic disorder due to the following: 1. State what are Mendelian disorders. Both Thalassae-
mia and colour blindness categorised as Mendelian
(a) An additional X-chromosome in a male
disorders. Justify. P [Delhi Set-3, 2020]
(b) Deletion of one X-chromosome in a female
Ans. Mendelian disorders are a type of genetic disorders
K [Outside Delhi Set-1, 2019] in humans which is caused by alteration or mutation

3. State what does aneuploidy lead to. in a single gene.
K [Outside Delhi Set-1, 2019] Thalassaemia: Thalassaemia is an autosomal recessive

Ans. Failure of segregation of chromatids during cell disorder of red blood cells. In thalassaemia, one
division cycle results in the gain or loss of a of the components of the haemoglobin molecule is
chromosome(s), called aneuploidy. It could lead inadequately produced or not produced at all.
to genetic disorders like Down's syndrome, and The reason for the inadequate or non-production
Turner's syndrome. of these components is a change in the genetic

This Question is for practice and its solution is given at the end of the chapter.
 ,

code (mutation), in that part of the DNA, which is 6. Thalassemia is an autosomal recessive disorder
the template for the production of the protein. A that causes anaemic conditions in an individual. A
mutation may exist on one chromosome of a pair. blood smear from a heterozygous individual shows
Colour blindness: It is a sex-linked recessive disease blood cells that are small, pale and irregularly
in which the gene controlling a specific trait is shaped along with normal RBCs.
present in its recessive form on the X-chromosome. (a) State the genotypic and phenotypic ratios of
It is a heredity disease in which the individual fails to offspring born to a carrier mother and a thalassemic
distinguish red and green colours. This gene appears father.
in the normal (dominant) and the mutant (recessive) (b) Does the allele for thalassemia exhibit codominance?
form. Because the females have two X chromosome Justify. U [AQP 2023-24]
while males have only one X chromosome, for a
female to get affected by colour blindness, she has Ans. (a) Genotypic ratio: 1:1 ratio of carriers:affected
to have the mutant gene on both the X chromosomes Phenotypic ratio: 50% will not show major
while males may be affected if they carry it on the symptoms while 50% will show the symptoms.
X-chromosome.  1+1
(b) - Yes
2. Differentiate between ‘ZZ’ and ‘XY’ type of sex-
determination mechanisms. U [Delhi Set-3, 2015] - Since both proteins are produced/both types of
Ans. ZZ type of sex determination mechanism is found in RBCs are visible, it is codominance.
birds, reptiles and fish. In this type, the females have [Marking Scheme APQ, 2023-24]
heteromorphic sex chromosomes (ZW), while males


have homomorphic sex-chromosomes (ZZ). Females
are heterogametic i.e., produce two dissimilar types
Short Answer Type Questions-II (3 marks each)


of eggs while males produce only one type of sperms. 1. How does gain or loss of chromosome(s) takes
The egg determines the sex of the individual. place in humans? Describe one example each of
XY type of sex determination mechanism is found chromosomal disorder along with the symptoms
involving an autosome and a sex chromosome.

in human beings. In this type, the male individuals
have heteromorphic sex chromosomes (XY) and are K [SQP, 2020-21]

therefore heterogametic i.e., producing two types
of sperms are with X and the other carrying the Y Ans. Failure of segregation of chromatids during cell
chromosome. The females have homomorphic sex division cycle results in the gain or loss of a
chromosome (XX) and homogametic i.e., produce chromosome(s) (aneuploidy) 1


only one type of eggs. The sex of the offspring Autosomes:
is determined by the type of sperm taking part in Down’s Syndrome: The cause is the presence of an
­fertilisation. 2 additional copy of the chromosome number 21 (trisomy
3. A haemophilic father can never pass the gene for of 21). ½
haemophilia to his son. Explain. The affected individual is:
 Short-statured with small round head.

U [Delhi Comptt. Set-1, 2018]
 Furrowed tongue and partially open mouth.

4. (a) Explain the cause responsible in a human to
have sex chromosomes as 'XXY' instead of 'XX' or  Palm is broad with characteristic palm crease.
'XY'.  Physical, psychomotor and mental development is
(b) List any two ways such individuals are different retarded. (Any one symptom ½ Mark)
from the normal being.  U
[Outside Delhi Set-2, 2020] Sex chromosomes:
Klinefelter’s Syndrome: This is caused due to the

Ans. (a) Cause: Presence of an additional copy of X-chro-
mosome in male. This condition is known as Kline- presence of an additional copy of X- chromosome
felter’s syndrome. resulting into a karyotype of 47, XXY. ½
(b) Features of affected individual: Overall masculine Such an individual has overall masculine development.
development, however, the feminine development
is also expressed.  Feminine development is also expressed by the
(i) Development of breast (Gynaecomastia). development of breast/ Gynaecomastia. Such
(ii) Sterile. individuals are sterile. (Any one symptom ½ Mark)
(iii) Mentally retarded. 1+1

If students give the example of Turner’s Syndrome, it should
5. Which chromosomes carry the mutant genes be considered and marks given.
causing thalassaemia in humans? What are the
[Marking Scheme SQP, 2020-21]
problems caused by these mutant genes ?
K [Delhi Comptt. Set-2, 2015]

2. (a) Compare the mechanism of sex determination of humans with that of honey bees, with respect to chromosome
number.
(b) How is the gamete formation comparable in the above two cases? U [Outside Delhi Set-2, 2020]
Ans. (a) Difference between sex determination in humans and honey bee:
Sex determination in humans Sex determination in honey bee
(a) Human has 23 pairs of chromosomes (22 pairs are (a) The females are diploid having 32 chromo-
autosomes and 1 pair is sex chromosomes). A pair of somes and males are haploid i.e., having 16
X-chromosomes (XX) is present in the female, whereas numbers of chromosomes. This is called
X and Y chromosomes are present in a male. haplo-diploid sex determination system.

This Question is for practice and its solution is given at the end of the chapter.
Principles of Inheritance and Variation

(b)
(b)

3. Explain the mechanism of ‘sex determination’ in birds. How does it differ from that of human beings? U
[Outside Delhi/Delhi, 2018]

Ans. Birds: Female heterogamety / female produces (Z)
types and (W) type of gametes ½


Humans: Male heterogamety / male produces (X)
types and (Y) types of gametes ½


[2+1=3 marks]

[Marking Scheme OD/Delhi, 2018]

(2)

OR
Topper Answer, 2018
 ,

Long Answer Type Questions  (5 marks each) mia major. In the heterozygous state, the adverse
1. Study the pedigree chart given below and answer effect of thalassaemia is minor. The trait (Thalas-
the questions that follow:  K [SQP 2022-23]
saemia) is inherited as autosomal recessive. This is
found equally in both males and females. However
the defective alleles for thalassaemia in both males
and females unlike haemophilia expresses itself only
when it is in homozygous condition. The heterozy-
gote for recessive trait remain unnoticed but act as
heterozygous carriers.

3. (i) State the cause and symptoms of colour blindness

(a) On the basis of the inheritance pattern exhibited in in humans.
this pedigree chart, what conclusion can you draw (ii) Statistical data has shown that 8% of the human
about the pattern of inheritance?  [1] males are colour-blind whereas only 0.4% of
(b) If the female is homozygous for the affected trait females are colour-blind. Explain giving reasons
in this pedigree chart, then what percentage of her how is it so. Ap [Foreign Set-2, 2015]
sons will be affected ?  [1]
Ans. (i) The colour blindness is due to recessive sex linked
(c) Give the genotype of offsprings 1,2,3 and 4 in III disorder. In this disorder of vision the patient is
generation.  [1]
unable to distinguish between red and green colour.
(d) In this type of inheritance pattern, out of male and The gene for colour blindness is located on the X
female children which one has less probability of
chromosome.
receiving the trait from the parents. Give a reason.[2]
(ii) The colour blindness is found in about 8% of the
Ans. (a) X- linked, Recessive trait
males and only 0.4% of the females. The greater
(b) 100% prevalence of the colour blindness in males is due
(c) 1. XY OR XY, 2. XX, 3. XY, 4. XX to the presence of only one X chromosome and the
(d) The possibility of the female getting the trait is less. hemizygous (X and Y) expression of the allele for
The female will get the trait only if the mother is at colour blindness i.e., if gene for colour blindness
least a carrier and the father is affected. is present on the X-chromosome of male then it
2. Thalassaemia and Haemophilia are both Mendelian will always express while in case of females the
disorders related to blood. Write the symptoms of incidence of disease of colour blindness is possible
the diseases. Explain with the help of crosses the only in homozygous condition (XCXC) i.e., if both
difference in the inheritance pattern of the two the X-chromosomes carry the allele (XCXC) for colour
diseases. U [Foreign Set-3, 2016] blindness. The occurrence of the allele for colour

Ans. Difference in inheritance pattern: blindness on one of the X chromosome makes the
Haemophilia: It is a sex-linked (X-linked) recessive female a carrier XCX.

disorder, inherited from a haemophilic father (XhY) 4. The chromosome number is fixed for all normal
or carrier mother (XhX). Females are haemophilic organisms leading to species specification whereas
only in homozygous double recessive state (XhXh) any abnormality in the chromosome number of
but such females die before birth. an organism results into abnormal individuals.
For example, in humans 46 is the fixed number of
chromosomes both in male and female. In male it
is ‘44+ XY and in female it is neg 44 + XX’ Thus
the human male is heterogametic, other words
produces two different types of gametes one
with 22 + X’ chromosomes and the other with Y
chromosomes respectively. Human female, on the
other hand is homogametic i.e. produces only one
type of gamete with “ 22 +X” chromosomes only.
Sometimes an error may occur during meiosis of cell
cycle, where the sister chromatids fail to segregate
Thalassaemia: It is caused by haemolytic anaemia. It called nondisjunction, leading to the production

shows autosomal recessive pattern of inheritance and of abnormal gametes with altered chromosome
is controlled by two pairs of alleles (HBA1 & HBA2). number. On fertilisation such gametes develop into
The effect is more pronounced when the defective abnormal individuals.
gene occur in homozygous state, causing thalassae- (a) State what is aneuploidy?
Principles of Inheritance and Variation

(b) If during spermatogenesis, the chromatids of sex X-chromosome. It results in the disorder called
chromosomes fail to segregate during meiosis,

Klinefelter syndrome. Features of affected
write only the different types of gametes with individual: Overall masculine development,
altered chromosome number that could possibly be however, the feminine development is also
produced. expressed. e.g.,
(c) A normal human sperm (22 + Y) fertilises an ovum (i) Development of breast (Gynaecomastia).
with karyotype 22 + XX’ Name the disorder the
(ii) Sterile.
offspring thus produced would suffer from and
(iii) Mentally retarded
write any two symptoms of the disorder.
OR
OR
(c) Name a best known and most common autosomal (c) Down’s syndrome is the best known and most
aneuploid abnormality in human and write any two common autosomal aneuploid abnormality.
symptoms. Features of affected individual:
U [SQP 2023-24]
(i) They are short statured with small round head.
Ans. (a) Aneuploidy is a type of chromosomal (ii) Broad flat face.
aberration, where there is one extra chromosome (iii) Furrowed big tongue and partially open
or one missing chromosome. 1 mouth.
(b) Due to non-disjunction of chromatids during (iv) Many “loops” on finger tips.
spermatogenesis, some sperms will carry both sex (v) Palm is broad with characteristic palm crease.
chromosomes and some sperms will not carry any (vi) Retarded physical, psychomotor and mental
sex chromosome. 1 development.
(c) If a normal human sperm (22 + Y) fertilizes an (vii) Congenital heart disease.
ovum with karyotype 22+XX, the zygote will [Marking Scheme SQP, 2023-24]
have the karyotype 44 + XXY. This is trisomy of

COMPETENCY BASED QUESTIONS
Explanation: In summary, male grasshoppers have
Objective Type Questions
one less sex chromosome than females, aligning with
[A] Multiple Choice Questions statement I. However, statement II, suggesting that
1. What is the MINIMUM possibility of a dominant male birds have one more sex chromosome than
trait being expressed in the offspring after a test females, is inaccurate. In reality, birds have a ZW
cross? system for females and ZZ for males, making the
(A) 25% (B) 50% (C) 75% (D) 100%
number of sex chromosomes equal in both genders,
K [APQ 2023-24]
Ans. Option (B) is correct. as stated in III. Statement IV, claiming that male
Explanation: The minimum possibility of a dominant grasshoppers have an additional sex chromosome,
trait being expressed in the offspring after a test cross is false, as males usually have a chromosomal
is 50%. This is because if the individual with the dom- deficiency. Similarly, Statement V is incorrect; male
inant phenotype is heterozygous (having one domi- and female grasshoppers typically do not have the
nant allele and one recessive allele), then 50% of the same number of sex chromosomes. Therefore, the
offspring will inherit the dominant allele and express accurate statements are I and III.
the dominant trait, while the other 50% will inherit 3. The probability of all possible genotypes of
the recessive allele and display the recessive trait. offsprings in a genetic cross can be obtained with
2. Which of the following statements regarding sex the help of : U [SQP 2023-24]
determination are true? In addition to autosomes-
(A) Test cross (B) Back cross.
I. Male grass hoppers have one less sex chromosome
than females. (C) Punnett square. (D) Linkage cross.
II. Male birds have one more sex chromosome than Ans. Option (C) is correct.
female. Explanation: Punnett square is a graphic representa-
III. Number of sex chromosomes is equal in male and tion of the probabilities of all the possible genotypes
female birds. and phenotypes of offsprings in a cross.
IV. Male grass hoppers have one additional sex 4. The number of different type of gametes that would
chromosome than females. be produced from a parent with genotype AABBCc
V. Male and female grass hoppers have the same is: U [Term-I 2021]
number of sex chromosomes.
(A) I and II (B) I and III (A) 1 (B) 2 (C) 3 (D) 4
(C) II and IV (D) III and V Ans. Option (B) is correct.
U [APQ 2023-24] Explanation: The number of types of gametes that

Ans. Option (B) is correct. would be produced, depends upon the number of
heterozygous pairs.
 BIOLOGY, Class-XII

No. of types of gametes = 2n 7. Given below is a karyotype of a human foetus

(Here, n = no. of heterozygous pair) obtained for screening to find any probable genetic

Therefore, 21 = 2 disorder: U [SQP 2023-24]
The types of gametes = ABC and ABc


Based on the karyotype, the chromosomal disor-
5. Possibilities of the blood groups of the children in

der detected in unborn foetus and the consequent
a family where the father is heterozygous for blood
group "A" and the mother is heterozygous for blood symptoms the child may suffer from are:
group "B" would be: U [Term-I 2021]

(A) Blood Gr A and B
(B) Blood Gr A,B and O
(C) Blood Gr A B and O
(D) Blood Gr A,B,AB and O 1 2 3 4 5 6
Ans. Option (D) is correct.
Explanation: Father is heterozygous for blood group
‘A’ and mother is heterozygous for blood group ‘B’ .
The genotype of father and mother will be IA i and IB 7 8 9 10 11 12
i respectively.

13 14 15 16 17 18

19 20 21 22 X Y

(A) Turner's syndrome: Sterile ovaries, short stature

(B) Down's syndrome: Gynecomastia, overall mascu-
Hence, phenotypes of all offsprings = A, B, AB and line stature
O blood group. (C) Turner's syndrome: Small round head, flat back of
head
6. The correct statement with respect to Thalassemia
(D) Down's syndrome: Furrowed tongue, short stature
in human is: U [SQP 2023-24]
(A) Alpha-thalassemi a is controlled by a single gene Ans. Option (A) is correct.
HBB. Explanation: The karyotype is showing monosomy
= 2n-1 as there is no chromosome at ‘Y’ place.
(B) The gene for alpha-Thalassemia is located on Hence, in this case the genetic constitution will
chromosome-16. be 44 + XO (i.e., 45 chromosomes).Therefore, the
(C) Beta-Thallassemia is controlled by two closely karyotype detects Turner’s disorder. It is a genetic
linked genes HBA-1 and HBA-2. disorder caused due to the absence of one of the
X-chromosomes. Such females are sterile as ovaries
(D) In beta Thallassemia the production of alpha are rudimentary. Other features include lack of
globin chain is affected. other secondary sexual characters, short stature and
underdeveloped feminine characters.
8. In the dihybrid cross that was conducted by Morgan involving mating between parental generation for genes
yellow bodied, white eyed female Drosophila and wild type male Drosophila, upto F2 generation is given below:

y+ w+ y+ w

Wild type White

y w y w+

y w y w
yellow, white yellow
F1 generation F2 generation
y+ w+ y+ w+ y+ w
Wild type Yellow, white
y w y w
Wild type White
y w y w+

y w y w
yellow, white yellow

Study the result obtained of the F2 progeny. Select the correct option from the given choice for the F2 progeny.


U [Term-I 2021]

This Question is for practice and its solution is given at the end of the chapter.
Principles of Inheritance and Variation

(A) Parental type, 1.3%: Strength of linkage high Explanation: In this question the mother and father
(B) Recombinant types, 1.3%: Strength of linkage of a person with ‘O’ blood group have ‘A’ and ‘B’
low blood group, respectively. This can be possible only
(C) Parental type 98.7%: Strength of linkage high when both the mother (IA i) and the father (IB i) are
(D) Recombinant types, 98.7%: Strength of linkage heterozygous. respectively.
low 12. Which of the following pairs is wrongly matched?
Ans. Option (B) is correct. (A) Starch synthesis in pea: Multiple alleles
Explanation: In a dihybrid cross, white eyed, yellow (B) ABO blood grouping: Co-dominance
bodied female Drosophila was crossed with red eyed, (C) Flower colour in Snapdragon: Incomplete
brown bodied male Drosophila. The cross produced dominance
1.3% recombinants and 98.7% progeny with parental (D) T.H. Morgan: Linkage [SQP 2023-24]
type combination in the F2 generation. Ans. Option (A) is correct.
Due to linkage when two genes in a dihybrid Explanation: Codominance is a phenomenon in
cross were situated on the same chromosome, the which both alleles of a pair express themselves fully
proportion of parental gene combinations were in the F1 hybrid. A good example of codominance is
much higher than the non-parental type. human ABO blood grouping in which the four main
9. Variations caused due to mutations are blood groups A, B, AB and O are controlled by three
(A) random and directionless alleles.
(B) random and directional Linkage is a phenomenon of genetic inheritance in
(C) random and small which genes of a particular chromosome show their
(D) random, small and directional. K [SQP 2023-24] tendency to inherit together. Linkage was discovered
10. Study the pedigree analysis of human given below by T.H. Morgan in Drosophila melanogaster.
& identify the type of inheritance along with an Flower colour in Mirabilis jalapa (Snapdragon) is an
example: [SQP 2023-24] example of incomplete dominance.
13. Colour blindness is an X-linked recessive disease.
Tina and her friend Ketan are suffering from colour
blindness. Which of these would be true for both?
U [CFPQ]

(A) Tina’s father is colour-blind, and Ketan’s mother
is either a carrier or colour-blind.
(B) Tina’s mother must be colour-blind, but Ketan’s
father is a carrier.
(A) Sex-linked recessive, Haemophilia (C) Tina’s father is colour-blind, but Ketan’s father is
(B) Sex-linked dominant, Vitamin D resistant rickets a carrier.
(C) Autosomal recessive, Sickle-cell anaemia (D) Tina’s mother must be colour-blind and her
(D) Autosomal dominant, Myotonic dystrophy A father must be normal, but Ketan’s mother is
Ans. Option (D) is correct. either a carrier or colour-blind.
Explanation: Autosomal dominant, are the traits Ans. Option (A) is correct.
whose encoding gene is present on any one of the Explanation: For a woman to be colour-blind, the X
autosomes, and the wildtype allele is recessive to chromosome passed on by the father (who has just
its mutant allele, which means the mutant allele is one X chromosome) must have the colour-blindness
dominant. For example, Myotonic dystrophy. trait.
11. Mother and father of a person with ‘O’ blood group 14. In a certain species of insects, some have 13
have ‘A’ and ‘B’ blood group, respectively. What chromosomes and the others have 14 chromosomes.
would be the genotype of both mother and father? The 13 and 14 chromosome bearing organisms are
(A) Mother is homozygous for ‘A’ blood group and (A) males and females, respectively
father is heterozygous for ‘B’. (B) females and males, respectively
(B) Mother is heterozygous for ‘A’ blood group and (C) all males
father is homozygous for ‘B’. (D) all females [SQP 2023-24]
Ans. Option (A) is correct.
(C) Both mother and father are heterozygous for ‘A’
Explanation: The 13 and 14 chromosome-bearing
and ‘B’ blood group, respectively.
organisms are males and females, respectively.
(D) Both mother and father are homozygous for ‘A’
It is because the sex determination in this taxon
and ‘B’ blood group, A [SQP 2023-24]
of insects is of male heterogamety with XO type.
Ans. Option (C) is correct.
This means females have their eggs bearing an
 ,

additional X chromosome besides autosomes. And Ans. Option (D) is correct.

males have their sperms bearing an X chromosome Explanation: Thalassemia is a group of genetic blood
whereas some do not. Therefore sperm without an disorders that are characterised by reduced or absent
X chromosome will have chromosome number to be synthesis of one or more of the globin chains of
one less than that of the females of same species. In hemoglobin. It is not related to myoglobin, which is
this case males have 13 autosomes and females have a protein found in muscle tissue that is involved in
14 autosomes and one X chromosome. oxygen storage.
[B] Assertion & Reason 5. Assertion (A): When white eyed, yellow bodied
Drosophila females were hybridised with red
Directions: In the following questions, a statement eyed, brown-bodied males; and F1 progeny was
of assertion (A) is followed by a statement of reason intercrossed, F2 ratio deviated from 9 : 3 : 3 : 1.
(R). Mark the correct choice as:
Reason (R): When two genes in a dihybrid are on
(A) Both assertion (A) and reason (R) are true and
the same chromosome, the proportion of parental
reason (R) is the correct explanation of assertion
gene combinations is much higher than the non-
(A).
(B) Both assertion (A) and reason (R) are true but parental type. A [SQP 2022-23]

reason (R) is not the correct explanation of 6. Assertion (A): Haemophilia is an autosomal
assertion (A). disorder.
(C) Assertion (A) is true but reason (R) is false. Reason (R): A haemophilic father can never pass
(D) Assertion (A) is false but reason (R) is true. the gene for haemophilia to his son. U [OEB]


1. Assertion (A): All genetic disorders Mendelian or Ans. Option (D) is correct.
chromosomal are transmitted from one generation Explanation: Haemophilia is a sex-linked recessive
to the other. disorder in which X-chromosome has the
Reason (R): Genes are located on chromosomes. haemophilic gene. A son inherits a Y chromosome
U [SQP 2023-24] from father and gene for haemophilia is not present

Ans. Option (D) is correct. on Y chromosome hence, a haemophilic father can
Explanation: Mendelian disorders are transmitted never pass the gene for haemophilia son.
to offspring on the same lines as in the principles of
inheritance. The pattern of inheritance of Mendelian [C] Case Based MCQs
disorders can be traced in a family by the pedigree Attempt any four sub-parts from each question. Each
analysis. question carries 1 mark.
2. Assertion (A): Sickle cell anemia is an autosomal I. Read the following text and answer the following
recessive trait.
questions on the basis of the same: [OEB]
Reason (R): It is transmitted from parents to the
Down syndrome (sometimes called Down’s syndrome)
offsprings even when one partner is the carrier for
is a condition in which a child is born with an extra copy
the disease. U [APQ 2023-24]
of their 21st chromosome hence its other name Trisomy
Ans. Option (A) is correct.
21. The affected individual mental retarded, short-
Explanation: Sickle cell anemia is correctly identified
statured with small round, head, furrowed tongue
as an autosomal recessive trait, associated with a
and partially open mouth, physical, psychomotor and
mutation in the HBB gene located on an autosomal
chromosome (chromosome 11). The assertion holds mental development is retarded. A

true, as individuals need to inherit two copies of the 1. The number of chromosomes a child with Down
mutated gene to express the disease. The provided syndrome has is
reason is accurate, emphasising that the condition (A) 45 (B) 46
can be transmitted to offspring even when only one (C) 47 (D) 48
parent is a carrier, reflecting the autosomal recessive Ans. Option (C) is correct.
inheritance pattern. Explanation: The affected person inherited with one
3. Assertion (A): A colour-blind father will always extra copy of 21st chromosome that forms trisomy
have a colour-blind son.
condition.
Reason (R): Genes causing colour blindness are
2. Down syndrome is:
passed through a sex chromosome.
(A) sex-linked (B) chromosomal

U [APQ 2023-24]
(C) dominant (D) recessive

4. Assertion (A): In Thalassemia an abnormal myoglo-
Ans. Option (D) is correct.
bin chain is synthesized due to a gene defect.
Explanation: Down syndrome is an autosomal
Reason (R): a-Thalassemia is controlled by genes
recessive disorder which can be inherited through
HBA1 and HBA2 on chromosome 16.
normal parents in the child.
[Delhi Set-1, 2023]

This Question is for practice and its solution is given at the end of the chapter.
Principles of Inheritance and Variation

3. One of this trait is seen in a person with Down Ans. (a) X- linked, Recessive trait1
syndrome
(b) 100% 1
(A) Upward slant eye (B) Baldness
(c) 1. XY, 2. XX, 3. XY, 4. XX 2
(C) Small stature (D) Long neck
OR
Ans. Option (C) is correct.
The possibility of the female getting the trait is less.
Explanation: The person affected with Down syn­

The female will get the trait only if the mother is at
drome has symptoms like mental retarded, short-
least a carrier and the father is affected.
statured with small round, head, furrowed tongue, etc.
[Marking Scheme SQP 2023-24]
4. Down Syndrome is an extra copy which


chromosome II. In 1900, three Scientists (de Vries, Correns and von
nd st Tschermak) independently rediscovered Mendel’s
(A) 22 chromosome (B) 21 chromosome
th
results on the inheritance of characters. Also, by
(C) 45 chromosome (D) 47th chromosome
this time due to advancements in microscopy that
Ans. Option (B) is correct. were taking place, scientists were able to carefully
Explanation: Down Syndrome is due to extra copy of observe cell division. This led to the discovery of
21st chromosome forming trisomy condition. structures in the nucleus that appeared to double
5. Down syndrome is caused due to: and divide just before each cell division. These
(A) bacterial infection were called chromosomes.
(B) a chromosomal abnormality lack of oxygen
supply to the brain during birth
(C) viral infection
(D) a chromosomal abnormality
Ans. Option (D) is correct.
Explanation: Down syndrome is due to autosomal
chromosome abnormality.
Give answers to the following. [OEB]
[D] Case Based Subjective Questions 1. Explain the process of chromosome segregation
I. Study the pedigree chart given below and answer the during gamete formation and how it relates to
questions that follow: Mendelian principles. (1 mark)
Ans. During gamete formation, chromosomes occur
in pairs and segregate such that only one of each
pair is transmitted to a gamete. This segregation
is independent, meaning one pair segregates
independently of another pair.
2. Describe the experimental approach used by
Thomas Hunt Morgan and his colleagues to verify
the chromosomal theory of inheritance. (2 marks)
Ans. Morgan and his colleagues worked with Drosophila
(a) On the basis of the inheritance pattern exhibited in melanogaster, commonly known as fruit flies, for their
this pedigree chart, what conclusion can you draw experiments. They utilized the clear differentiation
about the pattern of inheritance? 1 mark of sexes in fruit flies and the ability to observe
(b) If the female is homozygous for the affected trait hereditary variations under low power microscopes.
in this pedigree chart, then what percentage of her By conducting controlled matings and observing
sons will be affected? 1 mark the inheritance patterns of traits, they demonstrated
how genes were located on chromosomes and
(c) Give the genotype of offspring 1, 2, 3 and 4 in third
behaved according to Mendelian principles.
generation. 2 marks
3. How do chromosomes segregate during meiosis,
OR
and what is the significance of this process in
In this type of inheritance pattern, out of male and
producing genetic variation? (1 mark)
female children which one has less probability of
Ans. During meiosis, chromosomes segregate in pairs,
receiving the trait from the parents? Give a reason.
and each pair aligns independently at the metaphase
U [SQP 2023-24] 2
plate during anaphase I. This independent assort-

 ,

ment results in the random distribution of maternal Ans. The chromosomal theory of inheritance, proposed by
and paternal chromosomes into gametes, contrib- Sutton and Boveri and later verified by Morgan and
uting to genetic variation. The exchange of genetic his colleagues, unified the principles of Mendelian
material between homologous chromosomes during inheritance with the behavior of chromosomes
during cell division. It provided a framework for
crossing over in prophase I also enhances genetic di-
understanding how genes are transmitted from one
versity.
generation to the next and how genetic variation
OR
arises through processes such as independent
3. Explain the significance of the chromosomal assortment and crossing over. This theory laid the
theory of inheritance in understanding patterns of foundation for modern genetics and revolutionized
inheritance. (1 mark) our understanding of inheritance patterns.

SOLUTIONS FOR PRACTICE QUESTIONS (TOPIC-1)

VSATQs SATQs-II
3. All possible genotypes of offspring in a genetic cross 5. Dominance: One allele expresses itself in the hybrid
carried between pure line tall and dwarf plant is as heterozygous condition, other is suppressed. e.g.,
follows:
In the case of A, B and O, law of dominance is the
pattern of inheritance as IA / IB dominant over i.
Incomplete dominance: Neither of the two alleles

of a gene is completely dominant over the other
in heterozygous the hybrid is Intermediate. e.g.,
Dogflower/ Snapdragon/Antirrhinum.
Co-dominance: Both the alleles of a gene are

expressed in a heterozygous hybrid containing two
dominant alleles. e.g., In the AB group, both the
alleles IA and IB express. It is the case of codominance.
1+1+1

5. Polygenic trait is influenced by more than one gens. LATQs
Skin colour in human is controlled by three genes
2. (a) Thomas Hunt Morgan chose Drosophila as his
which are responsible for synthesis is of melanin pig
experimental model because,
mint.  [Marking Scheme, 2015] 1
(i) It breeds very quickly.
SATQs-I (ii) They complete their life cycle in about two weeks.
2. Walter Sutton and Theodore Boveri proposed Therefore, breeding can be done throughout
Chromosomal Theory of inheritance. the year.
Following are the observations that led Sutton and (iii) They can be grown on a simple synthetic medium

Boveri to come up with the Chromosomal Theory of in the laboratory.
inheritance: (iv) Easily distinguishable male and female.
(i) Chromosome and genes are present in pairs in
(v) Hereditary variations can be seen with low
diploid cells.
power microscopes.  (Any four)
(ii) Homologous chromosomes separate during gamete
formation (meiosis). (b) Morgan carried out several dihybrid crosses in
(iii) Fertilisation restores the chromosome number to Drosophila to study sex-linked genes. He found that
diploid condition. the two genes did not segregate independently
(iv) The chromosomal theory of inheritance claims that, of each other and the F2 ratio deviated from the
it is the chromosomes that segregate and assort 9:3:3:1 ratio (expected when the two genes are
independently. 1+1 independent).
Principles of Inheritance and Variation

Cross A Cross B

y w y+ w+ w m w+ m+
Parental
y w w m
yellow, white wild type White, miniature Wild, type

y w y w w m w m
F1 generation
y+ w+ w+ m+
Wild type yellow, white Wild type White, miniature

Gametes
Parental Recombinant Parental Recombinant
type (98.7%) type (1.3%) type (62.8%) type (37.2)

y+ w+ y+ w w+ m+ w+ m

Wild type White Wild type miniature

y w y w+

yellow, white yellow White, miniature white

F2 generation
y+w+ y+ w w+ m+ w+ m+

y w y w w m w m
Wild type white Wild type miniature
y w y+w+ w m w+ m+

y w y w w m w m
yellow, white yellow White, miniature white

2+3

SOLUTIONS FOR PRACTICE QUESTIONS (TOPIC-2)
VSATQs SATQs-I
2. (a) Klinefelter’s Syndrome 3. It is a sex linked recessive disorder in which
X-chromosome has the haemophilic gene. Son
(b) Turner’s Syndrome. ½+½ inherits a Y chromosome from father and gene for


[Marking Scheme, 2019] haemophilia is not present on Y chromosome.1+1

[Marking Scheme, 2018]

4. Thalassaemia 1
5. 11th and 16th chromosomes carry the mutant gene

[Marking Scheme, 2016] causing thalassaemia.
These cause the formation of abnormal haemoglobin
5. Colour blindness. [Marking Scheme, 2016]

molecules resulting into anaemia. 1+1


[Marking Scheme, 2015]

 ,

SOLUTIONS FOR PRACTICE QUESTIONS (MCQs)

MCQs are random and directionless. De Vries believed
mutations caused speciation and hence called
6. Option (B) is correct.
saltation (single step large mutation).
Explanation: Thalassemia is an autosome-linked
recessive blood disease transmitted from parents
to offspring when both the partners are unaffected
A&R
carrier for the gene. a-Thalassemia is controlled by 3. Option (D) is correct.
two closely linked genes HBA-1 and HBA-2 located Explanation: A colour-blind father may or may not
on chromosome 16 of each parent. b-Thalassemia is have colour-blind sons, depending on the specific
controlled by a single gene HBB on chromosome 11. inheritance pattern and the genotype of the mother.
The production of b-globin chain is reduced due to 5. Option (A) is correct.
mutation of one or both the alleles of the gene. Explanation: On crossing F1 hybrid with parent plant
9. Option (A) is correct. then the recessive genotypic characters of F1 hybrid
Explanation: According to Hugo de Vries, mutations will inherit in the offspring as dominant genotypic
characters.

REFLECTION
1. Did you understand the concept of chromosomal theory of inheritance in terms of heredity
transmission?

2.

The above disease shows the inheritance of color-blindness trait. Based on this information, can you
recall which child gets affected with such disease?
3. Were you able to think of a condition where the genetic constitution shows 47 Chromosome in males,
i.e., 44A + XXY?
4. Did you know the term used for the karyotypic condition such as 2n ± 1 and 2n ± 2?
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