INDEX

1. Theory 03 - 40

2. Exercise 41 - 50

3. Answers Key 51
 THEORY
PRINCIPLES OF INHERITANCE AND VARIATION 3

Principles of Inheritance and Variation

1. Introduction

Genetics: (Gk. genesis - descent) Genetics is a branch of biology that is concerned with the study of genes, genetic variations,
and heredity in organisms. The term genetics was given by William Bateson in 1906.
Heredity: (L. hereditas - heirship or inheritance) Heredity, also called inheritance, is the passing on of traits from parents to
their offspring either through asexual reproduction or sexual reproduction
Variation: It is the degree of differences between the progeny and and parents.

Genetic Terminologies

 Character: A phenotypic property of an individual such as stem height, flower colour, hair colour is termed as a
character.
 Trait: It is an inherited character and its detectable variant such as tall or dwarf, purple or white colour of flower,
curly or straight hair.
 Factor: It is a unit of heredity, a particle present in the organism which is responsible for the inheritance and
expression of a character. Factor is passed from one generation to the next through gametes and not a character
itself.
 Gene: It is a particular segment of DNA which is responsible for the inheritance and expression of a character.
The term was coined by Johannsen in 1909.
 Allele or Allelomorph: The two (or more) alternative forms of a gene (factor) are called alleles of each other.
They occupy identical loci or positions on homologous chromosomes
 Homologous chromosomes: The morphologically and structurally similar chromosomes present in a diploid cell
are called homologous chromosomes or homologues. They have identical gene loci bearing alleles.
4 PRINCIPLES OF INHERITANCE AND VARIATION

 Loci: A fixed position or location on a chromosome that is occupied by a gene or one of its alleles. The allelic
gene occupies the corresponding loci in a pair of homologous chromosomes.

Fig 5.1 Homologous Chromosomes

 Homozygous (Pure Breeding): It is an individual which contains identical alleles of a gene or factors of a
character on its homologous chromosome. The homozygote is pure for its character and breeds true. It is of two
types: Homozygous dominant (TT) and homozygous recessive (tt).
 Heterozygous or Hybrid: It is an individual possessing dissimilar alleles for a particular character. Heterozygous
does not breed true for that trait and produce two types of gametes, e.g F1 generation hybrid Tt.

Fig 5.2 Homozygous and heterozygous alleles

 Dominant allele: It is one of the pair of alleles which can express itself even in the presence of an alternative allele i.e,
in heterozygous condition. Only dominant express in hybrid.
 Recessive allele: The allele which is unable to express its effect in the presence of an alternative allele i.e, in a
heterozygous condition. It expresses only in the presence of another identical allele.

Fig 5.3 Dominant and recessive alleles

PRINCIPLES OF INHERITANCE AND VARIATION 5

 Genotype: It is the representation of the genetic constitution of an individual with respect to a single character or a set
of characters, e.g. in Pea, tall plants can have genotype TT or Tt and dwarf will have tt. Genotype for yellow round
seeds will be YYRR or YyRr and for green wrinkled seeds will be yyrr. Entire genetic constitution of an organism is
called ‘genome’.
 Phenotype: The external appearance of an individual for any trait is called phenotype for that trait. It is observable
and determined by different combinations of alleles. In Pea, the height of stem tall and dwarf are two phenotypes.

Fig 5.4 Genotypic and phenotypic ratios

 F1 generation: (L. Filin - son) The progeny produced from a cross is called first filial or F1 generation. It shows a
uniform expression.
 F2 generation: F2 or second filial generation is the generation of individuals which arise as a result of selfing or
interbreeding of F1 generation offsprings. It shows two or more types of individuals in a particular ratio
 Punnett Square or checkerboard: It is a diagram that is used to show possibilities of combinations in a particular
cross or breeding experiment. It is named after Reginald C Punnett who devised this approach. It is used by breeders
to know all the possible genotypes and phenotypes of offspring produced in a cross.

Fig. 5.5. Punnett Square

 Monohybrid Cross: A monohybrid cross is a cross between two organisms with different variations at one genetic
locus of interest. To carry out such a cross, each parent is chosen to be homozygous or true breeding for a given trait .
Generally, the monohybrid cross is used to determine the dominance relationship between two alleles.
 Dihybrid Cross: Dihybrid cross is a cross between two individuals who differ in two observed traits that are
controlled by two distinct genes.
 6 PRINCIPLES OF INHERITANCE AND VARIATION

1. Mendel’s Laws of Inheritance

Fig. 5.6. Gregor Johann Mendel - Father of Genetics

Gregor Johann Mendel is known as the Father of Genetics. He was born in a village in Austria on July 22, 1822 to a farmer’s
family.
In 1856, Mendel observed two types of peas growing in his monastery and became fascinated. He worked on garden pea i.e.
Pisum sativum for 7 years from 1856-1863. He was the first person to demonstrate the transmission of characters from one
generation
to another.
During Mendel’s investigations into inheritance patterns it was for the first time that statistical analysis and mathematical logic
were applied to problems in biology. His experiments had a large sampling size of around 10000 pea, which gave greater
credibility to the data that he collected. Mendel also gave certain generalisations, some of which were later raised to the status of
laws or founding principles of heredity. They constitute the foundation of genetics. Hence, he was given the title of Father of
Genetics.
Mendel died in 1844 without getting recognition for his work as his work got published in 1866.

1.1 Mendel’s Experiments

1.1.1 Why did Mendel Choose Garden Pea?

Fig. 5.7 Pea plant (Pisum sativum)

The reasons for choosing pea plant by Mendel for his experiments were:
 Pure varieties of pea plants were available.
 Pea plants show a number of easily detectable contrasting characters.
PRINCIPLES OF INHERITANCE AND VARIATION 7

 The flower structure of the pea plant is to allow controlled breeding. The pea plant shows self-pollination as well as
cross pollination.
 It is an annual plant with a short life span and gives results within three months.
 A large number of seeds are produced per plant.
 The plant is grown easily and does not require after care except at time of pollination.

1.1.2 Contrasting characteristics in Pea plants

S.No. Characters Contrasting Trait

1. Stem height Tall / dwarf
2. Flower colour Violet / white
3. Flower position Axial / terminal
4. Pod shape Inflated / constricted
5. Pod colour Green / yellow
6. Seed shape Round/ wrinkled
7. Seed colour Yellow / green

Fig. 5.8 Seven pairs of contrasting characters in pea

1.2.3 Mendel’s Experimental Techniques

Three steps were involved in Mendel’s experiment. These are:
Selection of pure or true-breeding parent plants:
 Mendel initially selected 34 varieties for his experiments but selected 7 pairs of true and pure breeding varieties of pea with
easily distinguishable alternate traits.
 Upon self pollination, a pure variety gives rise to offsprings having similar traits.
 Such true breeding plants were used as parents for hybridisation.
Hybridization of pure plant for F1 generation plants:
 Crossing or mating of two varieties of plants or animals is called hybridization.
 Plants with contrasting traits were cross pollinated, where 50% of flowers function as the male parent and the other 50%
functions as the female parent. The steps in this process are as follows:
 8 PRINCIPLES OF INHERITANCE AND VARIATION

Fig 5.9 Steps of hybridisation in Mendel’s experiments

Selfing the F1 Hybrid plant for raising F2 and F3 generations

 The F1 generation plants were allowed to self-pollinate.
 Mendel collected the seeds and raised a new generation of plants which were called F2. or second filial generation.
 Further self-pollination produced F3 or the third filial generation.

1.2 Inheritance of One Gene

1.2.1 Mendel’s Monohybrid Cross
Monohybrid cross refers to a cross between two organisms of a species which differ in a single pair of contrasting characters.
PRINCIPLES OF INHERITANCE AND VARIATION 9

Fig. 5.10 Pea plants differing in one character: height

A monohybrid cross explains both the first and second laws of Inheritance i.e., the Law of Dominance and the Law of
Segregation.

Fig, 5.11 Monohybrid cross between a tall and dwarf pea plant

Steps of Mendel’s monohybrid cross include:

 Pure-breeding tall pea plants were crossed with pure-breeding dwarf pea plants to study the inheritance of one gene.
 Seeds produced as a result of this cross were collected and grown to generate plants of the first hybrid generation. This
generation is also called the Filial-1 progeny or the F1.
 Mendel observed that all the plants in the F1 progeny were tall, like one of its parents, and none were dwarf.
 He made similar observations for the other pairs of traits and found that the F1 individuals always resemble either one of the
parents, and that the trait of the other parent was not seen in them.
 He explained this phenomenon by the Law of Dominance.

1.2.2 Law of Dominance (Mendel’s First Law)

The Law of Dominance or Mendel’s 1st Law of Inheritance states that in a cross between two organisms pure for any pair or pairs
of contrasting characters, the character that appears in F1 generation is called dominant and one which is suppressed (or does not
appear in the F1 generation) is called recessive.
10 PRINCIPLES OF INHERITANCE AND VARIATION

Fig. 5.12 Dominant-recessive characteristics in pea plants

In other words, there is always a uniform expression in the F1 generation).

ACHIEVER’S CORNER

Explanation of the concept of Dominance

Every gene contains the information to express a particular trait. In a diploid organism, there are two copies of each gene, i.e.,
as a pair of alleles.
Now, these two alleles need not always be identical, as in a heterozygote. One of them may be different due to some changes
that it has undergone (about which you will read further on, and in the next chapter), which modifies the information that
particular allele contains.
Let’s take an example of a gene that contains the information for producing an enzyme. Now there are two copies of this gene,
the two allelic forms.
 Let us assume (as is more common) that the normal or wild-type allele produces the normal enzyme that is needed for the
transformation of a substrate S, and the other allele has undergone some modification. This modified allele could be
responsible for production of –
 Normal/less efficient enzyme
 A non-functional enzyme
 No enzyme at all
Therefore, if even one copy of the wild-type allele is present, the normal enzyme is produced. But when both the copies of the
alleles are modified, the proper functioning enzyme would be absent, leading to the homozygous recessive phenotype.

DO YOU KNOW?

There can be cases where dominance of one allele over another is not complete! Also, sometimes there is no single allele that is
dominant and instead all the alleles present are equally dominant. Thus, the law of dominance is significant and true, but it’s not
universally applicable. We will learn about it later in the chapter under deviations from Mendelian inheritance.
PRINCIPLES OF INHERITANCE AND VARIATION 11

1.2.3 Law of Segregation (Mendel’s Second Law)

Once all the F1 progenies were obtained and they showed the dominant phenotype, Mendel then self-pollinated the F1 plants (all
tall plants) and to his surprise found that in the F2 generation, some of the offsprings were ‘dwarf’. This was particularly
confusing, because the dwarf trait was not observed in F1, but it was now expressed in F2.
In this respect, Mendel observed that:
 The proportion of plants that were dwarf were 1/4th of the F2 plants, while 3/4th of the F2 plants were tall.
 The tall and dwarf traits were identical to their parental type and did not show any blending. This means that all the offspring
were either tall or dwarf, none were of in between height.
 Similar results were obtained with the other traits that he studied, where only one of the parental traits was expressed in the F1
generation while at the F2 stage both the traits were expressed in the proportion 3:1. The contrasting traits did not show any
blending at either F1 or F2 stage.
 The change in the genotype of the F2 progeny was explained by the Law of segregation.
The Law of Segregation or Mendel’s 2nd law of inheritance states that members of an allelic pair in a hybrid remain together
without mixing with each other, and they separate or segregate only during gamete formation. Thus, a gamete can receive only
one of the two alleles and are hence pure for a given trait (In other words, a gamete contains only one version of a character).
Therefore, this is also known as the law of purity of gametes.
All sexually reproducing higher organisms are diploid (2n) having two sets of chromosomes and gametes are haploid (n) having
one set of chromosomes. Therefore, the law of segregation is universally applicable.

1.2.4 Monohybrid Ratios

Fig 5.13 Mendel’s Monohybrid cross

 Phenotypic ratio = TT: tt = 3 : 1
 Genotypic ratio = TT: Tt: tt = 1 : 2 : 1
12 PRINCIPLES OF INHERITANCE AND VARIATION

1.3 Inheritance of Two Genes

1.3.1 Mendel’s Dihybrid Cross
Dihybrid cross refers to a cross between two individuals who differ in two pairs of contrasting characters.

Fig. 5.14 Pea plants differing in two characters: seed shape and seed colour

The steps of Mendel’s dihybrid cross were:

 In the dihybrid cross, Mendel took a pea plant with round and yellow seeds and crossed it with another pea plant with green
and wrinkled seeds.
 The seeds produced as a result of this cross grew to generate plants of the first hybrid generation all of which had yellow and
round seeds.

Fig. 5.15 Dihybrid cross - F1 offspring

 The self pollination of the F1 generation produced round-yellow; wrinkled-yellow; round-green and wrinkled-green in the
ratio 9:3:3:1. Such a ratio was observed for several pairs of characters that Mendel studied.
 The ratio of 9:3:3:1 can be derived as a combination series of 3 yellow: 1 green, with 3 round : 1 wrinkled. This derivation
can be written as follows:
(3 round : 1 wrinkled) x (3 yellow : 1 green) = 9 round-yellow : 3 wrinkled-yellow: 3 round-green : 1 wrinkled-green.
As we can see, phenotypes that were not present in the earlier generation, like wrinkled-yellow or round-green seeds, have been
formed in F2.
This phenomenon can be explained by the Law of Independent Assortment.

1.3.2 Law of Independent Assortment (Mendel’s Third Law)

The Law of Independent Assortment, or Mendel’s 3rd law of inheritance, states that when the two homozygous parents differing in
two pairs of contrasting traits are crossed, the inheritance of one pair of alleles is independent of the other (or each character is
inherited independently). In other words, when a dihybrid (or polyhybrid) forms gametes, assortment or distribution of alleles of
different traits is independent of their original combinations in the parents.
However, the Law of independent assortment is not universally applicable. Exception of this law is observed in the event of
‘linkage’. We will learn about this later in the chapter.
PRINCIPLES OF INHERITANCE AND VARIATION 13

1.3.3 Dihybrid Ratios

Fig 5.16 Mendel’s Dihybrid cross

 Phenotypic ratio: 9 (round, yellow): 3 (round, green) : 3 (wrinkled, yellow) : 1 (wrinkled, green). Hence, the ratio of
phenotypes is 9:3:3:1
 Genotypic ratio: RRYY 1: RRYy 2: RRyy 1: RrYY 2: RrYy 4: Rryy 2: rrYY 1: rrYy 2: rryy 1
Though there are deviations, Mendel’s laws of Inheritance form the basis of how characters are inherited across generations. The
laws can be summarized as follows:

Law of Dominance This law states that in a cross between two organisms pure for any pair or pairs of
contrasting characters, the character that appears in F1 generation is called
dominant and one which is suppressed is called recessive.

Law of Segregation or Law of Purity of This law states that members of an allelic pair in a hybrid remain together
Gametes without mixing with each other and separate or segregate during gamete
formation. Thus gametes receive only one of two factors and are pure for a given
trait. Therefore, this is also known as the law of purity of gametes.

Law of Independent Assortment This law states that when the two homozygous parents differing in two pairs of
contrasting traits are crossed, the inheritance of one pair is independent of the
other. In other words, when a dihybrid (or polyhybrid) forms gametes, assortment
or distribution of alleles of different traits is independent of their original
combinations in the parents.

Fig. 5.17 Summary of Mendel’s laws of Inheritance

1.4 Test Cross and Back Cross

If an offspring is crossed back with one of its parents, it is called a back cross.
14 PRINCIPLES OF INHERITANCE AND VARIATION

A test cross is a special type of back cross, which is performed in order to test for the genotype of an individual showing the
dominant phenotype.
In the F1 generation, the hybrids are definitely heterozygous, but in the F2 generation, all tall plants are not heterozygous.
Therefore to find out whether a tall plant, or any dominant expression is homozygous or heterozygous, a test cross can be
performed.
In the test cross, the F1 hybrid (heterozygous dominant individual in F1) is crossed with its homozygous recessive parent.
Depending on whether the cross is monohybrid or dihybrid, the test cross works in the following way:

1.4.1 Monohybrid Test Cross

 In a monohybrid test cross, of pure tall and pure dwarf plant, all F1 hybrids are tall and genotype Tt. To verify their genotype,
when they are crossed, with the recessive parent tt, the progeny will be 50% tall and 50% dwarf.
 This is because the recessive parent produces only one type of gamete ‘t’ while the hybrid produces two types of gametes ‘T’
and ‘t’.
 Therefore, half the progeny will have genotype ‘Tt’ and half will have ‘tt’
T T
Tt tt
t
(tall) (dwarf)

 Both the phenotypic and genotypic ratios are 1:1. This is called the test cross ratio in a monohybrid cross.
1.4.2 Dihybrid Test Cross
 In case of a dihybrid cross, the FI individuals are heterozygous for two characters - for example: seed shape and seed
colour (RrYy).
 For the test cross, this heterozygous individual is crossed with its homozygous recessive parent, with the genotype rryy.

RY Ry rY Ry
ry RrYy Rryy rrYy rryy
(round, yellow) (round, green) (wrinkled, yellow) (wrinkled green)

 Both the phenotypic and genotypic ratios are 1:1:1:1. This is called the dihybrid test cross ratio.

1.4.3 Difference Between Test Cross and Back Cross

Fig 5.18 Test cross and back cross

PRINCIPLES OF INHERITANCE AND VARIATION 15

 A cross between F1 hybrids (Tt) and their homozygous tall parent (TT) is also a back cross, but it will produce all tall plants -
50% pure tall (TT) and 50% hybrid tall (Tt).
 Therefore, a back cross with the dominant parent cannot be used to test the genotype.
 A test cross is therefore a back cross, but a back cross may not necessarily be a test cross.

Types of Cross Depiction Genotypic Ratios Phenotypic Ratios

Monohybrid Cross Tt × Tt 1:2:1 3:1
Monohybrid test Cross Tt × tt 1:1 1:1
Dihybrid Cross RrYy × RrYy 1:2:1:2:4:2:1:2:1 9:3:3:1
Dihybrid Test Cross RrYy × rryy 1: 1 : 1 : 1 1: 1 : 1 : 1

Fig. 5.19 Monohybrid and Dihybrid ratios

2. Deviations from Mendelian Genetics

(Post-Mendelian Genetics)
Gene interactions refer to the influence of alleles and non-alleles on the normal phenotypic expression of genes.
Gene interactions can be of two types:
 Intragenic Interaction (inter-allelic interactions) - In intragenic interactions, the two alleles (present on the same gene
locus on the two homologous chromosomes) of a gene interact in such a way so as to produce a phenotypic expression
different from the typical dominant-recessive phenotype.
 Example: incomplete dominance, codominance and multiple alleles.
 Intergenic Interaction (non-allelic interactions) - In intergenic or non-allelic interactions, two or more independent genes
present on the same or different chromosomes interact to produce a different expression.
Example: Pleiotropy and Polygenic Inheritance.

2.1 Incomplete Dominance

In incomplete dominance, both the genes of an allelomorphic pair express themselves partially. One gene cannot suppress the
expression of another completely. Thus, there is incomplete expression of phenotype in F1 generation.
16 PRINCIPLES OF INHERITANCE AND VARIATION

Fig. 5.21 Incomplete dominance

 Genotypic ratio = RR: Rr: rr = 1 : 2 : 1

 Phenotypic ratio= Red : Pink : White = 1 : 2 : 1
Some examples of Incomplete dominance are as follows:
 Flower colour in snapdragon (Antirrhinum majus) and Four O’ clock plant (Mirabilis jalapa) :
In both Snapdragon (Antirrhinum majus) and the Four O’ clock plant (Mirabilis jalapa), there are two pure varieties: one with
red (RR) flowers and one with white (rr) flowers. When a red-flowered plant (RR) is crossed with a white-flowered plant (rr),
the F1 hybrids bear pink (Rr) flowers.
Upon selfing the F1 hybrids (Rr), the F2 generation showed; red (RR), pink (Rr) and white (rr) in 1:2:1 ratio. (Phenotypic and
genotypic ratios are the same).

Fig. 5.22 Monohybrid cross in Snapdragon showing incomplete dominance.

This means the factors segregate and there is no mixing of the factors. The intermediate shade (pink) is produced due to
incomplete dominance.
PRINCIPLES OF INHERITANCE AND VARIATION 17

Incomplete dominance does not favor the blending theory of inheritance, though in F1 all are pink; both the parental traits, red
and white reappear, each in 25%, in F2 generation.
 Starch Synthesis in pea seeds:
The gene for starch synthesis in pea seed can produce more than one effect. It has two alleles B and b. The combinations are
as follows:
 BB: Large starch grains, round mature seeds
 bb: Smaller starch grains, wrinkled mature seeds
 Bb: Intermediate sized starch grains, round mature seeds

Incomplete Dominance Complete Dominance

Starch Produced Shape of Seeds
BB Large starch grains Round
Bb Intermediate Starch Grains Round
Bb Small Starch grains Wrinkled

In case of the heterozygous condition in starch grains, the phenotype Bb shows incomplete dominance.
Therefore, dominance is not a feature of genes or products. It depends upon the gene product and the particular phenotype we
choose to examine when a gene produces more than one phenotype.

2.2 Codominance
When both the alleles of a gene express themselves simultaneously in a heterozygote, this condition is called codominance. In this
case, both the alleles are equally dominant.
Some examples are:

 ABO Blood Group in Humans:

ABO blood groups are controlled by the gene I. The plasma membrane of red blood cells have sugar polymers (polysaccharides as
surface antigens) that protrude from its surface.

Fig. 5.23 Different types of surface antigens on RBC determine blood groups
18 PRINCIPLES OF INHERITANCE AND VARIATION

The kind of sugar which will be expressed on the surface is controlled by the allele of the I gene that is expressed. The gene (I) has
three alleles IA, IB and i. The alleles IA and IB produce slightly different forms of the sugar (antigens A and B respectively), while
allele i does not produce any sugar.
Since humans are diploid organisms, each person possesses any two of the three I gene alleles. The following factors control
blood groups in humans:
 IA and IB are completely dominant over i. So when IA and i are present, only IA expresses (because i does not produce any
sugar). Similarly, when IB and i are present, only IB expresses.
 When IA and IB are present together, they both express their own types of sugars. This is because of codominance.
 When neither IA or IB is present, both the alleles are i, and no sugar is expressed on the surface.
 Since there are three different alleles, there are six different combinations of these three alleles that are possible. Therefore, a
total of six different genotypes and four phenotypes of the human ABO blood types can be found:

Allele from Parent 1 Allele from Parent 2 Genotype of offspring Blood types of offspring
IA IA IAIA A
IA IB IAIB AB
A A
I I Ii A
IB IA IAIB AB
IB IB IBIB B
IB i I Bi B
i i ii O
 Inheritance of Coat Colour in Cattle:
There are two types of cattle - one with red coat (skin with red colour hair) and one with white coat (with white colour hair)
When red cattle (RR) is crossed with a white cattle (WW), F1 hybrids have a roan coat (RW). Roans have a mix of white and
red colour hair. Thus both the traits are expressed
equally.

Fig. 5.24: Inheritance of coat colour in cattle - F1 generation

In F2 generation (produced by interbreeding of roans) red (RR), roans (RW) and white (WW) are produced in the ratio of
1:2:1. Thus in co-dominance also, the genotypic and phenotypic ratios are identical.
PRINCIPLES OF INHERITANCE AND VARIATION 19

Fig. 5.25: Inheritance of coat colour in cattle - F2 generation

2.3 Differences Between Codominance and Incomplete Dominance

Codominance Incomplete Dominance

Two parent phenotypes are expressed together in a Two parent phenotypes mix to create a new intermediate
heterozygous offspring phenotype in a heterozygous offspring

The two alleles neither act as dominant nor recessive over the One allele is not completely dominant over the other
other

No blending of parent alleles. Both parental alleles are The parental alleles blend, and a third intermediate phenotype
distinctly expressed is produced

A hybrid will not result in the formation of a new phenotype A hybrid will always result in a new phenotype

Phenotypic ratio: 1:2:1 Phenotypic ratio: 1:2:1

Genotypic ratio: 1:2:1 Genotypic ratio: 1:2:1

2.4 Multiple Allelism

If more than two alternative forms (alleles) of a gene exist in a population, occupying the same locus on a chromosome or its
homologue, it’s called multiple allelism. The alleles involved are called multiple alleles.
Examples of multiple allelism include:
 The ABO Blood grouping system:
Since there are three alleles or versions of the I gene responsible for governing the blood group phenotype - IA, IB and i -
therefore inheritance of blood groups in humans is also an example of multiple allelism.
Since in an individual only two alleles can be present, multiple alleles can be found only when population studies are made.
 Coat colour in rabbits:
The gene C controls coat colour in rabbits. There are 4 alleles that control coat colour in rabbits: C, Ch, Cch, c. The presence
of each of these alleles code for a different coat colour.
 C is dominant over all the other three allele (Cch, Ch, c); Possible genotypes - CC, CCch, CCh, Cc
 Cch is dominant for Ch and c, but recessive for C (Wild-type); Possible genotypes - Cch Cch, CchCh, Cchc
 Ch is dominant for c, but recessive for C, Cch; Possible genotypes - ChCh, Chc
20 PRINCIPLES OF INHERITANCE AND VARIATION

 c is recessive for C, Cch, Ch; Possible genotypes – cc

Fig. 5.26: Inheritance of coat colour in rabbits - Multiple allelism

3. Chromosomal Theory of Inheritance

Mendel published his work on inheritance of characters in 1865 but it remained unrecognised till 1900, for several reasons:
 Firstly, communication was not easy (as it is now) in those days and his work could not be widely publicised.
 Secondly, his concept of genes (or factors, in Mendel’s words) as stable and discrete units that controlled the expression of
traits and, of the pair of alleles which did not ‘blend’ with each other, was not accepted by his contemporaries as an
explanation for the apparently continuous variation seen in nature.
 Thirdly, Mendel’s approach of using mathematics to explain biological phenomena was totally new and unacceptable to many
of the biologists of his time.
 Finally, though Mendel’s work suggested that factors (genes) were discrete units, he could not provide any physical proof for
the existence of factors or say what they were made of.
In 1900, three Scientists (de Vries, Correns and von Tschermak) independently rediscovered Mendel’s results on the inheritance
of characters.

Fig. 5.27: Scientists who rediscovered Mendel’s results on inheritance of characters

Also by this time, due to advancements in microscopy, scientists were able to carefully observe cell division. This led to the
discovery of structures in the nucleus that appeared to double and divide just before each cell division. These were called
chromosomes (coloured bodies, as they were visualised by staining).
PRINCIPLES OF INHERITANCE AND VARIATION 21

 By 1902, the chromosome movement during meiosis had been worked out.

Fig 5.28. Meiosis and germ cell formation in a cell with four chromosomes.

Comparison between genes and chromosomes

Chromosome Gene
Occurs in pairs Occurs in pairs
Segregation occurs at the time of gamete formation such that Segregation occurs at the time of gamete formation and only
only one of each pair is transmitted to a gamete. one of each pair is transmitted to a gamete.
Independent pairs segregate independently of each other. One pair segregates independently of another pair.

3.1 Postulates of Chromosomal theory

Fig. 5.29: Scientist who postulated chromosomal theory

 Walter Sutton and Theodore Boveri noted that the behaviour of chromosomes was parallel to the behaviour of genes and used
chromosome movement to explain Mendel’s laws.
 The important thing to remember is that chromosomes as well as genes occur in pairs. The two alleles of a gene pair are
located on homologous sites on homologous chromosomes.
22 PRINCIPLES OF INHERITANCE AND VARIATION

Fig 5.30: Independent assortment of chromosomes

 Sutton and Boveri argued that the pairing and separation of a pair of chromosomes would lead to the segregation of a pair of
factors they carried. Sutton united the knowledge of chromosomal segregation with Mendelian principles and called it the
chromosomal theory of inheritance

Fig. 5.31: Mendelian inheritance explained using chromosomes

3.2 Morgan’s Experiments

PRINCIPLES OF INHERITANCE AND VARIATION 23

 Thomas Hunt Morgan (1866-1945), the American geneticist and Nobel Prize winner of 1933, is known as Father of
Experimental Genetics for his work and discovery of linkage, crossing over, sex linkage and criss cross inheritance. It was
largely due to his book “The Theory of Gene” that genetics was accepted as a distinct branch of biology.
 Morgan selected Drosophila melanogaster as an experimental material instead of pea. He is also known as the fly man of
genetics for choosing Drosophila as a research material in experimental genetics.

Fig. 5.32 : Male and female Drosophila

The advantages of using Drosophila are:

 It is easily available hovering over ripe mango/banana where it feeds on yeast present on the fruit surface. So it can be easily
reared inside bottles with yeast cultures.
 A new generation can be raised within 2 weeks with a single mating event, producing hundreds of individuals.
 The organism can be temporarily inactivated with ether and can be examined under a hand-lens.
 The animal possesses four pairs of chromosomes with different sizes. Polytene chromosomes occurring in salivary glands of
the larvae can indicate any type of chromosomal abnormality.
 Females are easily distinguishable from males because of their large size and ovipositor.

4. Linkage and Recombination

Linkage is the tendency of genes to stay together during inheritance through generations without any change or separation due to
their being present in close proximity on the same chromosome.
Morgan performed dihybrid crosses using Drosophila melanogaster, which led to the discovery of the phenomenon of linkage
and recombination.
Bateson and Punnett in 1906, and Morgan in 1910, observed that when two genes are located very close to each other on the same
chromosome, their alleles tend to end up in the same gamete.

Fig 5.33: Linked genes

4.1 Dihybrid Cross Conducted by Morgan.

24 PRINCIPLES OF INHERITANCE AND VARIATION

 Morgan hybridised yellow-bodied, white-eyed females to brown-bodied, red-eyed males and intercrossed their F1 progeny.

Fig. 5.34: Linkage: Results of two dihybrid crosses conducted by Morgan. Cross A shows crossing between gene
y and w; Cross B shows crossing between genes w and m. Here dominant wild type alleles are represented
with (+) sign in superscript. Note: The strength of linkage between y and w is higher than w and m.

4.2 Morgan’s Observations

PRINCIPLES OF INHERITANCE AND VARIATION 25

The observation made by Morgan upon experimenting with Drosophila were:

 Two genes did not segregate independently of each other and the F2 ratio deviated very significantly from the 9:3:3:1 ratio
(this ratio is only possible when the two genes are independent and do not influence each other’s inheritance).
 Morgan and his group knew that the genes were located on the X chromosome and saw quickly that when the two genes in a
dihybrid cross were situated on the same chromosome, the proportion of parental gene combinations were much higher than
the non-parental type.
 Morgan attributed this due to the physical association or linkage of the two genes and coined the term linkage to describe this
physical association of genes on a chromosome and the term recombination to describe the generation of non-parental
gene combinations.
 Morgan and his group also found that even when genes were grouped on the same chromosome, some genes were very tightly
linked (showed very low recombination) while others were loosely linked (showed higher recombination).
For example, he found that the genes white and yellow were very tightly linked and showed only 1.3% recombination while
white and miniature wings showed 37.2 percent recombination.
 His student Alfred Sturtevant used the frequency of recombination between gene pairs on the same chromosome as a measure
of the distance between genes and ‘mapped’ their position on the chromosome.
Linkage is an exception to Mendel’s law of independent assortment.

4.3 Linkage Groups

 Linked genes are present in a linear order in a chromosome. All genes belonging to the same chromosome belong to the same
linkage group.
 Number of linkage groups is equal to the haploid number of chromosomes.
 Human females have 23 linkage groups (22 pairs of autosomes and a pair of X chromosomes), whereas males have 24 linkage
groups (22 pairs of autosomes and X and Y chromosomes).

4.4 Types of Linkages

 Complete linkage (Tightly linked genes): Linked genes which are closely located in the chromosome and inherited together
are called completely linked genes. The phenomenon of their inheritance is called complete linkage.
 Incomplete linkage (Loosely linked genes): Linked genes which are distantly located on the chromosomes and may separate
during crossing over are called incompletely linked genes. The phenomenon of their inheritance is called incomplete linkage.

Complete Linkage Incomplete Linkage

Showed by genes that are located very closely within the same Showed by genes that are located distantly within the same
chromosome show complete linkage and are inherited chromosome and have a tendency to occasionally separate.
together over the generations without disrupting the linkage
groups.

There is no crossing over between closely linked genes Crossing over occurs in case of incomplete linkage, in order
to produce recombinants along with parental traits.

It is rare and has been reported in organisms like male It is quite common.
Drosophila, female silkworm, etc.

It produces offspring with the parental genotype only. No It produces more offspring with parental types (>50%) along
recombination is seen in the progeny. with few recombinants (<50%) in the progeny.
26 PRINCIPLES OF INHERITANCE AND VARIATION

Fig 5.35: Homologous and non homologous segments of XY chromosomes

 Complete sex linkage: It is exhibited by genes located on non-homologous regions of X and Y chromosomes. They get
inherited together because crossing over does not occur in non-homologous regions.
Example: X-linked traits like red-green color blindness and haemophilia and Y-linked like hypertrichosis.

Fig 5.36: Y-linked hypertrichosis.

 Incomplete sex linkage: It is exhibited by genes located on homologous regions of X and Y chromosomes. They do not
inherit together because crossing over occurs in homologous regions.
Example: Total colour blindness.

4.5 Arrangement of Linkage Groups

Linked genes are present in a linear order in a chromosome. Homologous chromosomes contain alleles of the same genes at the
same loci, and each set of alleles represent a linkage group.
There can be two kinds of arrangement of alleles in a linkage group:
 Cis Arrangement: When both the dominant genes are located on one chromosome and both the recessive genes are located
on another chromosome, it is known as cis-arrangement or cis-linkage. The genes involved are in a Coupling state.
PRINCIPLES OF INHERITANCE AND VARIATION 27

 Trans Arrangement: When a chromosome bears one dominant and one recessive gene, it is known as trans-arrangement or
trans-linkage. The genes involved are in Repulsion or Repulsive state.

Fig. 5.37: Cis and trans linkage groups

4.6 Linkage Ratios

 In case of regular Mendelian inheritance with independent assortment of alleles, the heterozygote RrYy can form four types
of gametes which, upon crossing with a homozygous recessive parent (rryy) produces four types of possible phenotypes each
with an equal probability of occurrence. Therefore the resulting ratio is 1:1:1:1.

F generation
2 RY Ry rY Ry
ry RrYy Rryy rrYy Rryy
ry RrYy Rryy rrYy Rryy
Percentage of Round, yellow Round, green Wrinkled, yellow Wrinkled, green
combination 25% 25% 25% 25%

However, in the case of linked genes it is a little different. In case of linked genes, the heterozygote would give only 2 types
of gametes and the number of unique phenotypes possible would be 2 (each with an equal probability of occurrence).
Therefore, the test cross ratio would be 1:1.

F generation
2 RY Ry
Ry RrYy Rryy
Ry RrYy Rryy
Percentage of combination Round, yellow 25% Wrinkled, green 25%

4.7 Recombination and Crossing Over

When non-sister chromatids of homologous chromosomes (obtained from different parents) synapse and cross-over, genetic
material is exchanged between them. This exchange of genetic materials is called recombination, which refers to new genetic
combinations, different from parental combinations.
28 PRINCIPLES OF INHERITANCE AND VARIATION

Fig 5.38: Formation of recombinants

 Janssens in 1909 and Morgan in 1910 discovered chiasmata formation during prophase of meiosis I leading to crossing over
of alleles by breaking and rejoining of homologous chromosomes.
 The mutual exchange of segments between non-sister chromatids of a pair of homologous chromosomes in the pachytene
stage of meiosis I, leading to the formation of new combinations of alleles of linked genes is called crossing over. In other
words, crossing over in pachytene leads to recombination.
 Mechanism of crossing over
Synapse —> Tetrad Formation —-> Chiasma formation and crossing over

Fig 5.39: Mechanism of crossing over

Importance of crossing over is:
 It leads to introduction of new genetic combinations and new traits, causing variation.
 Variation due to crossing over is useful for natural selection.
 Helps in creation of linkage maps which give the sequence of genes on a chromosome.
 Helps in breeding artificial strains with desirable qualities like disease resistance, higher yield of commercial products etc.
PRINCIPLES OF INHERITANCE AND VARIATION 29

5. Sex Determination
A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. Most
organisms that create their offspring using sexual reproduction have two sexes.
The cytological observations made in a number of insects led to the development of the concept of genetic/chromosomal basis of
sex-determination.

Fig. 5.48: Sex chromosomes X and Y

Henking (1891) could trace a specific nuclear structure all through spermatogenesis in a few insects, and it was also observed by
him that 50% of sperms received this structure after spermatogenesis, whereas the other 50% did not receive it. He called this
structure ‘X body’ but could not explain its significance.
Further investigations by other scientists led to the conclusion that the ‘X body’ of Henking was in fact a chromosome and that is
why it was given the name X-chromosome.

5.1 Sex Determination in Humans

Sex determining mechanism in case of humans is XX-XY type. The autosomes are 22 pairs of chromosomes that are identical in
both men and females out of 23 pairs. In females, there are two X-chromosomes, but the existence of both an X and a Y
chromosome makes the gender of the offspring as male.

Fig. 5.52: Sex determination in humans

30 PRINCIPLES OF INHERITANCE AND VARIATION

Two kinds of gametes are created during spermatogenesis in males. Apart from the autosomes, 50% of the total sperm generated
have the X-chromosome and the remaining 50% have the Y-chromosome.
Females, on the other hand, only produce one type of ovum with an X-chromosome. Fertilization of the ovum with sperm bearing
either the X or Y chromosome has an equal chance. The zygote develops into a girl (XX) if the ovum is fertilised with sperm
bearing the X-chromosome.

5.2 Sex Determination in Honey Bees (Haplodiploidy)

Sex determination in honeybee is based on the number of sets of chromosomes an individual receives.
An offspring formed from the union of a sperm and an egg develops as a female (queen or worker), and an unfertilised egg
develops as a male (drone) by means of parthenogenesis.
This means that the males have half the number of chromosomes than that of a female. The females are diploid having 32
chromosomes and males are haploid, i.e., having 16 chromosomes. This is called as haplodiploid sex-determination system and
has special characteristic features such as the males produce sperms by mitosis.

Fig. 5.53: Sex determination in Honey bees

Therefore in honeybees, males do not have a father and thus cannot have sons, but have a grandfather and can have grandsons.

6. Pedigree Analysis
Pedigree refers to the record of inheritance of certain genetic traits for two or more generations, presented in the form of a
family tree.
PRINCIPLES OF INHERITANCE AND VARIATION 31

Fig. 5.56: A typical family tree which can be used to trace inheritance of a condition

A pedigree chart is a diagram that shows the occurrence and appearance of phenotypes of a particular gene or organism and its
ancestors from one generation to the next.

The idea that disorders are inherited has been prevailing in human society since long. This was based on the heritability of certain
characteristic features in families. After the rediscovery of Mendel’s work, the practice of analysing inheritance patterns of traits
in human beings began. Since it is evident that control crosses that can be performed in pea plants or some other organisms, are
not possible in the case of human beings, study of the family history about inheritance of a particular trait provides an alternative.
Such an analysis of traits in several generations of a family is called the pedigree analysis.

6.1 Need of a Pedigree Analysis

In human genetics, pedigree analysis has proven to be a strong tool, which is utilized to trace the inheritance of a specific trait,
abnormality or disease down the generations. Pedigree analysis can help in:

 Identifying the inheritance pattern of a trait

 Predict the chances of occurrence of a disease in the upcoming generation

 Predict the relative predispositions of particular individuals (male or female) for a condition.

6.2 Symbols of Pedigree Analysis

Some of the important standard symbols used in the pedigree analysis have been shown in figure below:
32 PRINCIPLES OF INHERITANCE AND VARIATION

Fig. 5.57: Symbols used in Pedigree Analysis

6.3 Types of Pedigree Charts

Pedigree charts can be of the following types, depending on how a disease is inherited:

 Autosomal dominant - Mutation is in the autosomes and an affected individual can be homozygous dominant or heterozygous
for the diseased gene. Homozygous recessive individuals are not affected.

Fig 5.58: Pedigree chart for an autosomal dominant condition like Myotonic dystrophy

 Autosomal recessive - Mutation is in the autosomes and an affected individual must be homozygous recessive. Heterozygotes
are carriers of the disease with one allele and can pass it onto the next generation.

Fig 5.59: Pedigree chart for an autosomal recessive condition like sickle-cell
anemia. The heterozygous individuals in white are carriers.
PRINCIPLES OF INHERITANCE AND VARIATION 33

 X-linked dominant - Mutation is in the X-chromosome and one diseased X-allele is enough to show the diseased phenotype.
Both males and females can get affected, but more males than females. Affected sons must have an affected mother and
affected daughters must have either one parent affected.

Fig. 5.60: Pedigree chart for an X-linked dominant condition like Rett syndrome

 X-linked recessive - Mutation is in the X-chromosome but in a recessive condition. Hence, males are affected more often than
females since they have only one X (the second normal X in females can offset the effect of the diseased X). Affected
mothers pass it on to their son. Affected fathers can pass it on to the daughter but she becomes a carrier.

Fig. 5.61: Pedigree chart for X-linked recessive conditions like

colour-blindness or haemophilia
Since an affected person can pass on the disease to that of the opposite sex only, X-linked recessive inheritance is also called
criss-cross inheritance.

Fig. 5.62: Criss-cross inheritance of X-linked recessive conditions

34 PRINCIPLES OF INHERITANCE AND VARIATION

7. Genetic Disorders
Genetic disorders can be of two broad types:
 Mendelian Disorders
 Chromosomal Disorders

Fig. 5.63: Genetic disorders

7.1 Mendelian Disorders

Mendelian disorders are caused mostly by changes or mutations in a single gene. These abnormalities are passed down through
the generations in the same way as we have studied in the principle of inheritance.
Pedigree analysis can be used to trace the pattern of inheritance of Mendelian diseases in a family. Common examples of
Mendelian disorders include: colour blindness, haemophilia, cystic fibrosis, sickle cell anaemia, phenylketonuria, thalassemia, etc.
Mendelian disorders may be dominant or recessive, which one can easily recognise through pedigree analysis.
7.1.2 Colour Blindness
Colour-blindness a sex-linked recessive condition caused by a deficiency in either the red or green cone of the eye, causing
inability to distinguish between red and green colours.

Fig. 5.64: Red-green colour-blindness

This deficiency is caused by a mutation in one of the X chromosome's genes. It affects around 8% of males and barely 0.4 percent
of females.
It is because genes that cause red-green colour blindness lie on the X chromosome. Females have two X chromosomes whereas
males have just one. Since the disease is recessive, therefore it must be in the homozygous recessive form to produce a phenotype.
Hence, affected females will have the genotype XcXc. A male child born to a colour-blind mother will definitely be colour-blind,
since he will receive his only X-chromosome from the mother (XcY). Who possesses the colour-blindness gene has a 50% risk of
becoming colorblind.
PRINCIPLES OF INHERITANCE AND VARIATION 35

If the faulty gene is in a heterozygous condition (XcX) in the mother, she won’t be colour-blind. A daughter born to a colour-blind
mother and a normal father will normally not be colour blind (since she too will be XcX). However, if her mother is a carrier
(XcX) and her father is colour blind (XcY), the daughter has a 50% chance of being colour-blind (XcX or XcXc).

7.1.3 Haemophilia
This sex linked recessive disease, which shows its transmission from unaffected carrier female to some of the male progeny has
been widely studied.
In this disease, a single protein that is a part of the cascade of proteins involved in the clotting of blood is affected. This results in
people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.

Fig. 5.65: Continuous bleeding in Haemophilia

There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and
haemophilia B, which occurs due to low levels of clotting factor IX. They are typically inherited from one's parents through an X
chromosome, carrying a non-functional gene.
The heterozygous female (carrier) for haemophilia may transmit the disease to sons.
The possibility of a female becoming a haemophilic is extremely rare because the mother of such a female has to be at least a
carrier and the father should be haemophilic (unviable in the later stage of life).

7.1.4 Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-
term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. The mucus traps germs and
leads to infections. It can also cause severe lung damage like cysts (fluid-filled sacs) and fibrosis (scar tissue). That's how CF got
its name.

Fig. 5.67: Alveolar sac filled with mucus in cystic fibrosis

Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by mutations in a gene on chromosome 7.

7.1.5 Sickle Cell Anaemia

Sickle cell anemia is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. This is an autosomal recessive
trait that can be transmitted from parents to the offspring when both the partners are carriers for the gene (or heterozygous).
36 PRINCIPLES OF INHERITANCE AND VARIATION

Cause of sickle cell anemia:

 The sickle-cell disease is controlled by a single pair of alleles, HbA and HbS. Out of the three possible genotypes, only
individuals homozygous for HbS (HbSHbS ) show the diseased phenotype (proof of recessive condition of the disease).
 Heterozygous (HbAHbS) people may look unaffected, but they are disease carriers since there is a 50% chance of passing on
the mutant gene to children, resulting in the sickle-cell trait.
 The deficiency of RBCs is due to the replacement (mutation) of Glutamic acid (Glu) for Valine (Val) in the beta globin chain
of the haemoglobin molecule at the sixth position.
 When an amino acid in the globin protein is substituted, the consequence is single base substitution at the sixth codon of the
beta globin gene from GAG to GUG.

Fig. 5.68: Mutation in haemoglobin in case of sickle cell anaemia

 The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of
the RBC from biconcave disc to elongated sickle like structure.
 As a result of this alteration in the shape of RBCs, binding affinity towards oxygen is affected.

Fig. 5.69: Sickle-shaped RBCs in sickle cell anemia

7.1.6 Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. It
is inherited as an autosomal recessive trait.
PRINCIPLES OF INHERITANCE AND VARIATION 37

The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result of this,
phenylalanine accumulates and is converted into phenylpyruvic acid and other derivatives. Accumulation of these in the brain
results in mental retardation. These are also excreted through urine because of its poor absorption by kidneys.

Fig. 5.70: Symptoms of Phenylketonuria

7.1.7 Thalassemia
Thalassemia is an autosomal recessive disease of the blood, which is transmitted from parents to offspring when both the partners
are unaffected carriers (heterozygous) for the gene.
The defect or mutation that causes thalassemia could either be due to mutation or deletion which ultimately results in reduced rate
of synthesis of one of the globin chains (α and β chains) that make up haemoglobin. This causes the formation of abnormal
haemoglobin molecules, resulting in anaemia, which is characteristic of the disease.
Thalassemia can be classified according to which chain of the haemoglobin molecule is affected.
 α Thalassemia - Production of the α-globin chain is affected while in β Thalassemia, α Thalassemia is controlled by two
closely linked genes HBA1 and HBA2 on chromosome 16 of each parent and it is observed due to mutation or deletion of one
or more of the four genes. The more genes affected, the less alpha globin molecules produced.
 β Thalassemia - Production of the β-globin chain is affected. β-globin production is controlled by a single gene called HBB
on Chromosome 11 of each parent. Mutation in one or both the copies of this gene can cause thalassemia. and occurs due to
mutation of one or both the genes.

7.2 Chromosomal Disorders

In a typical human cell, there are 46 chromosomes in total (23 pairs). Autosomes account for 22 pairs of chromosomes, while sex
chromosomes account for one pair of chromosomes. Chromosomal abnormalities are caused by the absence, excess, or aberrant
organisation of one or more chromosomes.
38 PRINCIPLES OF INHERITANCE AND VARIATION

Fig. 5.71: Chromosomal aberrations

Chromosomal disorders may occur due to: aneuploidy or polyploidy.
 Aneuploidy- It occurs when chromatid segregation fails during cell division, resulting in the addition or deletion of a
chromosome(s). Aneuploidy is caused due to nondisjunction of a pair of homologous chromosomes during anaphase. It can
be of the following types:
 Trisomy - Caused by addition of one extra chromosome. The number of chromosomes in such cases is 2n+1.
 Monosomy or Nullisomy - Caused by deletion of one or both the chromosomes of a homologous pair. Number of
chromosomes is 2n-1 (monosomy) and 2n-2 (nullisomy).
 Polyploidy - It occurs due to failure of cytokinesis following the telophase stage of cell division results in an increase in a
complete set of chromosomes in an organism.
Chromosomal disorders can be of two types:
 Autosomal (involving the 22 pairs of autosomes)
 Sex-chromosomal (occurring in the X or Y chromosomes or allosomes)
Some of the commonly occurring chromosomal disorders are:
 Down’s syndrome
 Klinefelter’s syndrome
 Turner’s syndrome

7.2.1 Down’s Syndrome

Down’s syndrome is a genetic disorder that is caused when abnormal cell division results in an extra copy of chromosome 21
(trisomy of Chr 21). This extra genetic material causes developmental changes and physical features associated with Down’s
syndrome.
PRINCIPLES OF INHERITANCE AND VARIATION 39

Fig. 5.72: Karyotype of Down’s syndrome

John Langdon Down was the first to characterise this condition in 1866. Individuals with Down’s syndrome bear 47
chromosomes. This chromosomal aberration involves the autosomes, and can therefore occur equally in males (45+XY) or
females (45+XX).
Symptoms of Down’s syndrome include:
 Most children show typical facial features with a fold of skin over the inner corner of their eye (epicanthal skin fold). This
results in downward slanting of the eyelids.
 The face is typically flat with a round flat nose, and their mouth open with the tongue protruding outwards.
 Mental retardation.
 Due to poor skeletal development, they have a short stature and a relatively smaller skull, and their palate is arched.
 Flat hands with characteristic creases which run all the way across the palm (simian crease).

Fig. 5.73: Patient of Down’s syndrome

7.2.2 Klinefelter’s syndrome
Klinefelter’s syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY
chromosomes in men, they have XXY, and so this condition is sometimes called XXY syndrome. The existence of an extra copy
of the X makes the karyotype of this condition as 44+ XXY.
40 PRINCIPLES OF INHERITANCE AND VARIATION

Fig. 5.74: Karyotype of Klinefelter’s syndrome

Symptoms of Klinefelter’s syndrome are:

 Such a male individual has an overall masculine development, but feminine traits such as development of breast, or
gynaecomastia, is also observed in them.
 These individuals are tall, thin and eunnuchoid (sterile and poorly developed secondary sexual characteritics.
 Spermatogenesis is absent. Such individuals are sterile.
 They usually have normal intelligence.
7.2.3 Turner’s Syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing
an X chromosome. The lack of one of the X chromosomes in females makes the karyotype of this condition as 44+X0.

Fig 5.75: Karyotype of Turner’s Syndrome

Symptoms of Turner’s syndrome are:

 Females with Turner’s syndrome are sterile as their ovaries are rudimentary.
 Other features including lack of secondary sexual characters.
 They have short stature, webbing of neck and low posterior hairline.
41 PRINCIPLES OF INHERITANCE AND VARIATION

EXERCISE (Basic Exercise) 5. A colour blind girl is rare because she

Principle of inheritance and will be born only when

variation (a) Her mother and maternal grand
1. In human child, sex is determined by
father were colour blind
(a) Size and number of sperms in
(b) Her father and maternal grand
semen
father were colour blind
(b) Size of egg to be fertilized
(c) Her mother is colour blind and
(c) Sex chromosomes of father
father has normal vision
(d) Sex chromosomes of mother
(d) Parents have normal vision but
2. Round seed trait (R) is dominant over
grand parents were colour blind.
wrinkled (r) seed trait in Pea.
6. Identify the incorrect statement
Heterozygous round seeded plant (Rr)
regarding experiments on Pisum
is crossed with wrinkled seed plant
sativum by Gregor Mendel?
(rr). What is the possible progeny?
(a) He conducted hybridisation
(a) 302 round: 102 wrinkled
experiments on garden peas for seven
(b) 210 round : 95 wrinkled
years (1856-1863) and proposed the
(c) 103 round: 99 wrinkled
laws of inheritance in living organisms.
(d) 103 round : 315 wrinkled
(b) It was for the first time that statical
3. A dihybrid cross produces the
analysis and mathematical logic were
following progeny - AaBb = 240; Aabb
applied to problems in biology.
= 754; aaBb = 746; aabb = 260. What
(c) Unfortunately his experiments had
is the distance between the two genes
a small sampling size, which gave less
on the chromosome?
credibility to the data that he collected.
(a) 12.5 map units
(d) He investigated characters in the
(b) 1 map unit
garden pea plant that were manifested
(c) 20 map units
as two opposing traits.
(d) 25 map units
7. Which of the following is a recessive
4. Male pattern baldness is _______ a
trait for a character chosen by Mendel
trait
in garden pea?
(a) sex-linked
(a) Violet flower color
(b) sex-limited
(b) Yellow pod color
(c) sex-influenced
(c) Axial flower position
(d) Y-linked
42 PRINCIPLES OF INHERITANCE AND VARIATION

(d) Tall stem height bodied, red-eyed males and

8. Identify the incorrect statement: intercrossed their F1 progeny, the F2
(a) Tall plant produce gametes by ratio deviated very significantly from
meiosis and the dwarf plants by the 9:3:3:1 ratio. this can be attributed
mitosis. to the fact that:
(b) Only one allele is transmitted to a (a) The genes are located on X and Y
gamete. chromosomes
(c) The segregation of alleles is a (b) Fruit fly has abnormal
random process. chromosomes
(d) Gametes will always be pure for (c) The genes are located on the X
the trait. chromosome
9. The ultimate source of allelic variation (d) The genes exhibit incomplete
is: dominance
(a) Recombination 13. What is incorrect for Hemophilia?
(b) Natural selection (a) In this disease, a single protein that
(c) Mutation is a part of the cascade of proteins
(d) Drift involved in the clotting of blood is
10. In the case of co-dominance, the F1 affected.
generation resembles: (b) In an affected individual a simple
(a) Dominant parent cut will result in non-stop bleeding.
(b) Recessive parent (c) The heterozygous female (carrier)
(c) Both the parents for haemophilia may transmit the
(d) None of the parents disease to sons.
11. What can be the possible blood groups (d) The possibility of a female
of progeny whose father and mother becoming a haemophilic is extremely
are of A and B group respectively? rare because mother of such a female
(a) A and B only has to be hemophilic and the father
(b) AB only should be carrier
(c) All except O 14. Sickle cell anaemia results from.
(d) A, B, AB and O (a) A chromosomal aberration
12. When Morgan hybridised yellow- (b) Non disjunction of autosome
bodied, white-eyed females to brown- (c) A point mutation
43 PRINCIPLES OF INHERITANCE AND VARIATION

(d) Blood transfusion reaction (c) A classical example of a point

15. What is the mode of inheritance of mutation is sickle cell anaemia.
phenylketonuria? (d) Non ionising radiations cannot be
(a) Autosomal recessive mutations.
(b) Autosomal dominant 19. Pedigree analysis is resorted to for
(c) Sex linked recessive genetic analysis in humans rather than
(d) Sex linked dominant conventional genetic methods because:
16. Failure of cytokinesis after telophase I. Choice matings are not possible
stage of cell division results in an II. Number of progeny is limited
increase in a whole set of Of the two statements:
chromosomes in an organism and, this (a) Only I is correct
phenomenon is known as: (b) Only II is correct
(a) Aneuploidy (c) Both I and II are correct
(b) Translocation (d) Both I and II are incorrect
(c) Polyploidy. 20. In a monohybrid cross F1 progeny
(d) Inversion resemble neither of the parents. What
17. Which of the following is not a feature would be true in this case?
of Down's Syndrome? (a) The parental traits would not appear
(a) It is caused by a non-disjunction in in any of the F2-progenies
an autosome (b) The F2 phenotypic ratio will be
(b) The affected individual has trisomy different from the F2 genotypic ratio
of chromosome 21 (c) It could be a case of incomplete
(c) The affected individual has a dominance
characteristic simian palmar crease (d) The F2 phenotypic ratio will be
(d) The mental development of similar to any Mendelian monohybrid
affected individual is normal cross
18. Identify the incorrect statement: 21. The two alleles of a gene pair are
(a) In addition to recombination, located on:
mutation is another phenomenon that (a) Homologous sites on homologous
leads to variation in DNA. chromosomes
(b) Chromosomal aberrations are (b) Heterologous sites on homologous
commonly observed in cancer cells. chromosomes
44 PRINCIPLES OF INHERITANCE AND VARIATION

(c) Homologous sites on heterologous II. violate the law of independent

chromosomes assortment
(d) Heterologous sites on heretologous III. segregate together during meiosis
chromosomes (a) Only I and II
22. Male heterogamety is not seen in: (b) Only I and III
(a) Humans (c) Only II and III
(b) Melandrium album (d) I, II, III
(c) Birds 26. Consider the cross AaBb x AaBb. If
(d) Fruit fly the alleles for both genes exhibit
23. The trait shown in the given pedigree complete dominance, what genotypic
chart is most likely a/an: ratio is expected in the resulting
offspring?
(a) 1:1:1:1
(b) 9:3:3:1
(c) 3:6:3:1:2:1
(d) 1:2:1:2:4:2:1:2:1
27. Two phenotypically normal individuals
(a) Autosomal recessive trait
have an affected child. What can we
(b) Autosomal dominant trait
conclude about the parents?
(c) Sex linked recessive trait
(a) they both carried the disease allele
(d) Sex linked dominant trait
(b) they are not the parents of the child
24. Aneuploidy results from :
(c) they are affected
(a) Point mutations
(d) no conclusions can be drawn
(b) Gross structural changes in
28. What is the basis of pleiotropy?
chromosomes
(a) A spontaneous mutation during the
(c) Failure of cytokinesis after
replication of DNA.
telophase stage of cell division
(b) Interrelationship between various
(d) Failure of segregation of
metabolic pathways in the body.
chromatids during cell division
(c) Chromosomal aberration as
25. Which of the following are correct
chromosomes are the vehicles of
regarding linked genes?
genes.
I. are located near each other on the
same chromosome.
45 PRINCIPLES OF INHERITANCE AND VARIATION

(d) the behaviour of chromosomes 33. The disease inheritance pattern

during meiosis or gamete formation. exemplified in the given pedigree
29. A female whose father was colorblind analysis can be
marries and normal male whose father
was also colorblind. What is the
probablility that their daughter will be
colorblind?
(a) 0 %
(b) 25 % (a) Hemophilia

(c) 50 % (b) Red green colour blindness

(d) 75 % (c) Phenyl ketonuria

30. In humans, the dominance relationship (d) Polydactyly

between the A and B alleles of ABO 34. Consider the following statements:

blood group gene is an example of I. People affected by phenylketonuria

(a) complete dominance. are unable to convert tyrosine

(b) incomplete dominance. to phenylalanine.

(c) codominance. II. Alzheimer's disease results from

(d) epistasis accumulation of amyloid

31. One of the Mendel's pure strains of pea protein plaques in the brain.

plants had green peas. How many III. Klinefelter's and Turner's

different types of eggs could such a syndromes are the result of non

plant produce with regard to pea color? disjunction of the sex chromosomes in

(a) 1 either of sexes.

(b) 2 Which of the above statements are

(c) 3 true?

(d) 4 (a) I and II only

32. A woman receives her X chromosomes (b) I and III only

from: (c) II and III only

(a) Her mother only (d) I, II and III

(b) Her father only 35. Consider the following statements:

(c) Both her mother and father I. If we put them through test cross, all

(d) Mitochondria of mother only homozygous dominant combinations

46 PRINCIPLES OF INHERITANCE AND VARIATION

will breed true but heterozygous (b) Six

genotypes will follow the segregation. (c) Eight
II. Two gene interactions such as (d) Seven
epistasis do not follow the Menedelian 39. Among the following characters,
principle of segregation. which one was not considered by
III. In any diploid individual, only two Mendel in his experiments on pea?
alleles can be found, so multiple alleles (a) Stem - Tall or Dwarf
can be detected only in a population. (b) Trichomes - Glandular or Non-
Which of the above statements are glandular
true? (c) Seed - Green or Yellow
(a) I and II only (d) Pod - Inflated or Constricted
(b) I and III only 40. Thalassemia and sickle-cell anaemia
(c) II and III only are caused due to a problem in globin
(d) I, II and III molecule synthesis. Select the correct
36. A gene showing codominance has statement.
(a) one allele dominant on the other (a) Both are due to a qualitative defect
(b) alleles tightly linked on the same in globin chain synthesis
chromosome (b) Both are due to a quantitative
(c) alleles that are recessive to each defect globin chain synthesis
other (c) Thalassemia is due to less synthesis
(d) both alleles independently of globin molecules
expressed in the heterozygote (d) Sickle-cells anaemia is due to a
37. In his classic experiments on pea quantitative problem of globin
plants, Mendel did not use molecules
(a) seed colour 41. A disease caused by an autosomal
(b) pod length primary non-disjunction is
(c) seed shape (a) Down's syndrome
(d) flower position (b) Klinefelter’s syndrome
38. How many pairs of contrasting (c) Turner's syndrome
characters in pea plants were studied (d) Sickle-cell anemia
by Mendel in his experiments?
(a) Five
47 PRINCIPLES OF INHERITANCE AND VARIATION

42. The mechanism that causes a gene to (d) 1:2:1: Tall homozygous : Tall
move from one linkage group to heterozygous: Dwarf
another is called 46. Pick out the correct statements.
(a) inversion I. Haemophilia is a sex-linked
(b) duplication recessive disease
(c) translocation II. Down's syndrome is due to
(d) crossing-over aneuploidy.
43. A true breeding plant is III. Phenylketonuria is an autosomal
(a) one that is able to breed on its own recessive gene disorder
(b) produced due to cross-pollination IV. Sickle cell anaemia is an x-linked
among unrelated plants recessive gene disorder
(c) near homozygous and produces (a) II and IV are correct
offspring of its own kind (b) I, III and IV are correct
(d) always homozygous recessive in its (c) I, II and III are correct
genetic constitution (d) I and IV are correct
44. If a colourblind man marries a woman 47. In a test cross involving F1 dihybrid
who is homozygous for normal colour flies, more parental-type offspring
vision, the probability of their son were produced than the recombinant
being colourblind is type offspring. This indicates
(a) 0 (a) chromosomes failed to separate
(b) 0.5 during meiosis
(c) 0.75 (b) the two genes are linked and
(d) 1 present on the same chromosome
45. A tall true breeding garden pea plant is (c) both of the characters are controlled
crossed with a dwarf true breeding by more than one gene
garden pea plant. When the F1 plants (d) the two genes are located on two
were selfed the resulting genotypes different chromosomes
were in the ratio of 48. Which of the following most
(a) 1:2:1: Tall heterozygous: tall appropriately describes haemophilia?
homozygous: Dwarf (a) X-linked recessive gene disorder
(b) 3:1: Tall: Dwarf (b) Choromosomal disorder
(c) 3:1:: Dwarf: Tall (c) dominant gene disorder
48 PRINCIPLES OF INHERITANCE AND VARIATION

(d) Recessive gene disorder 54. A human female with turner's

49. The term "linkage" was coined by: syndrome
(a) TH Morgan (b) T Boveri (a) has 45 chromosomes with XO
(c) G Mendel (d) W Sulton (b) has one additional X-chromosome
50. A pleiotropic gene (c) exhibits male characters
(a) is expressed only in primitive plants (d) is able to produce children with
(b) is a gene involved during Pliocene normal husband
(c) controls a trait only in combination 55. Which of the following statements is
with another gene not true of two genes that show 50%
(d) control multiple traits in an recombination frequency?
individual (a) the genes may be on different
51. Multiple alleles are present chromosomes
(a) on different chromosomes (b) the genes are tightly linked
(b) at different loci on the same (c) the genes show independent
chromosome assortment
(c) at the same locus of the (d) If the genes are present on the same
chromosome chromosome, they undergo more than
(d) on non-sister chromatids one crossovers in every meiosis
52. An abnormal human baby with 'XXX' 56. If two persons 'AB' blood group marry
sex chromosomes was born due to and have sufficiently large number of
(a) formation of abnormal sperms in children, these children could be
the father classified as 'A' blood group: 'AB'
(b) formation of abnormal ova in the blood group : 'B' blood group in 1:2:1
mother ratio. Modern technique of protein
(c) fusion of two ova and one sperm electrophoresis reveals presence of
(d) fusion of two ova and two sperm both 'A' and 'B' type proteins in 'AB'
53. Alleles are blood group individuals. This is an
(a) different phenotype example of
(b) true breeding homozygotes (a) codominance
(c) different molecular forms of a gene (b) incomplete dominance
(d) heterozygotes (c) partial dominance
(d) complete dominance
49 PRINCIPLES OF INHERITANCE AND VARIATION

57. Which Mendelian idea is depicted by a 61. Which one of the following conditions
cross in which the F, generation correctly describes the manner of
resembles both the parents? determining the sex in the given
(a) Incomplete dominance example?
(b) Law of dominance (a) XO type of sex chromosomes
(c) Inheritance of one gene determine male sex in grasshopper
(d) Codominance (b) XO condition in humans as found
58. The incorrect statement with regard to in Turner syndrome, determines female
haemophilia is sex
(a) it is a sex-linked disease (c) Homozygous sex chromosomes
(b) it is a recessive disease (XX) produce male in Drosophila
(c) it is a dominant disease (d) Homozygous sex chromosomes
(d) a single protein involved in the (ZZ) determine female sex in birds
clotting of blood effected 62. Which one of the following cannot be
59. A normal-visioned man whose father explained on the basis of Mendel's Law
was colourblind, marries a woman of Dominance?
whose father was also a colourblind. (a) The discrete unit controlling a
They have their first child as a particular character is called a factor
daughter. What are the chances that (b) Out of one pair of factors one is
this child would be colourblind? dominant, and the other is recessive
(a) 100% (b) 0% (c) Alleles do not show any blendings
(c) 25% (d) 50% and both the characters recover as such
60. F2 generation in a Mendelian cross in F2 generation.
showed that both genotypic and (d) Factors occur in pairs
phenotypic ratios are same as 1:2:1. It 63. The genotype of a plant showing the
represents a case of dominant phenotype can be determined
(a) codominance by
(b) dihybrid cross (a) test cross (b) dihybrid cross
(c) monohybrid cross with complete (c) pedigree analysis (d) back cross
dominance 64. ABO blood groups in humans are
(d) monohybrid cross the incomplete controlled by the gene I. It has three
dominance alleles -IA, IB and i. Since there are
50 PRINCIPLES OF INHERITANCE AND VARIATION

three different alleles, six different (a) linkage is an exception to the

genotypes are possible. How many principle of independent assortment in
phenotypes can occur? heredity
(a) Three (b) One (b) galactosemia is an inborn error of
(c) Four (d) Two metabolism
65. Select the correct statement from the (c) small population size results in
ones given below with respect to random genetic drift in a population
dihybrid cross. (d) baldness is a sex limited trait
(a) Tightly linked genes on the same 68. Which one of the following condition
chromosome show higher in human is correctly matched with its
recombinations chromosomal abnormality/linkage?
(b) Genes far apart on the same (a) Klinefelter's syndrome—44
chromosome show very few autosomes + XXY
recombinations (b) Colourblindness - Y-linked
(c) Genes loosely linked on the same (c) Erythroblastosis foetalis-X-linked
chromosome show similar (d) Down syndrome—44 autosomes +
recombinations as the tightly linked XO
ones 69. A human male produces sperms with
(d) Tightly linked genes on the same the genotypes AB, Ab, aB and ab
chromosome show very few pertaining to two diallelic characters in
recombinations. equal proportions. What is the
66. Sickle cell anaemia is corresponding genotype of this person?
(a) an autosomal linked dominant trait (a) AaBb (b) AaBB
(b) caused by substitution of valine by (c) AABb (d) AABB
glutamic acid in the B-globin chain of 70. Inheritance of skin colour in humans is
haemoglobin. an example of:
(c) caused by a change in base pair of (a) chromosomal aberration
DNA (b) point mutation
(d) characterized by elongated sickle (c) polygenic inheritance
like RBCs with a nucleus. (d) codominance
67. Select the incorrect statement from the
following
51 PRINCIPLES OF INHERITANCE AND VARIATION

Answer Key
EXERCISE (Basic Exercise)
1. (c) 2. (c) 3. (d) 4. (c) 5. (b)

6. (c) 7. (b) 8. (a) 9. (c) 10. (c)

11. (d) 12. (c) 13. (d) 14. (c) 15. (a)

16. (c) 17. (d) 18. (d) 19. (c) 20. (c)

21. (a) 22. (c) 23. (a) 24. (d) 25. (d)

26. (d) 27. (a) 28. (b) 29. (a) 30. (c)

31. (a) 32. (c) 33. (c) 34. (c) 35. (b)

36. (d) 37. (b) 38. (d) 39. (b) 40. (c)

41. (a) 42. (c) 43. (c) 44. (a) 45. (d)

46. (c) 47. (b) 48. (a) 49. (a) 50. (d)

51. (c) 52. (b) 53. (c) 54. (a) 55. (b)

56. (a) 57. (d) 58. (c) 59. (b) 60. (d)

61. (a) 62. (c) 63. (a) 64. (c) 65. (d)

66. (c) 67. (d) 68. (a) 69. (a) 70. (c)