CHAPTER 5

PRINCIPLES OF INHERITANCE
AND VARIATION

CHAPTER 6
MOLECULAR BASIS OF
INHERITANCE

CHAPTER 7
UNIT 2- GENETICS EVOLUTION

AND EVOLUTION
 CHAPTER 6
PRINCIPLES OF INHERITANCE
AND VARIATION

SYLLABUS

Heredity and variation: Mendelian inheritance; deviations from Mendelism - incomplete

dominance, co-dominance, multiple alleles and inheritance of blood groups, pleiotropy; elementary
idea of polygenic inheritance; chromosomal theory of inheritance; chromosomes and genes; sex
determination - in humans, fruit fly, birds and honey bee; linkage and crossing over; mutation; sex
linked inheritance - haemophilia, colour blindness; Mendelian disorders in humans; chromosomal
disorders in humans.

Explanation of the terms heredity and variation; Mendel's Principles of inheritance; reasons for
Mendel's success; definition of homologous chromosomes, autosomes and sex chromosomes; alleles
– dominant and recessive; phenotype; genotype; homozygous; heterozygous, monohybrid and
dihybrid crosses; back cross and test cross, definitions to be taught with simple examples using
Punnett square. Incomplete dominance with examples from plants (snapdragon - Antirrhinum) and
co-dominance in human blood group, multiple alleles – e.g. blood groups, polygenic inheritance
with one example of 207 inheritance of skin colour in humans (students should be taught examples
from human genetics through pedigree charts. They should be able to interpret the patterns of
inheritance by analysis of pedigree chart). Biological importance of Mendelism. Pleiotropy with
reference to the example of Phenylketonuria (PKU) in human beings and starch synthesis in pea
seeds. Chromosomal theory of inheritance; autosomes and sex chromosomes (sex determination in
humans, fruit fly, birds, honey bees and grasshopper), sex-linked inheritance - with reference to
Drosophila (colour of body-yellow and brown; and colour of eyes-red and white), and man
(haemophilia and colour blindness), definition and significance of linkage and crossing over.
Mutation: spontaneous, induced, gene (point – transition, transversion and frame-shift);
chromosomal aberration: euploidy and aneuploidy; human genetic disorders: phenylketonuria,
thalassaemia, colour blindness, sickle cell anaemia; chromosomal disorders: Down’s syndrome,
Klinefelter’s syndrome, Turner’s syndrome

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 PRINCIPLES OF INHERITANCE AND
VARIATION

The similarities and differences in characters between parents and offspring or in

siblings are coincidental. These characters are received by the children from their
parents and grandparents. The science which deals with the mechanism
responsible for transfer of characters and similarities and differences between
parents and offspring or in siblings is called genetics.

HEREDITY AND VARIATION

Inheritance is the transmission of characters from parents to offspring, generation
after generation. It is described as genetic continuity of germinal material from
parents to offspring.
Genetics deals with (i) the mechanism of transmission of characters from parents
to offspring and (ii) causes of variations in closely related organisms. The term
genetics is coined by Bateson in 1905.
SOME IMPORTANT TERMS RELATED TO GENETICS
DEFINITIONS
TERM DEFINITIONS
GENE A region of DNA that helps determine a character

ALLELE One or more alternative forms of the same gene

occupying the same locus on a pair of homologous
chromosomes affecting the same character in different
ways

LOCUS Special place on a chromosome occupied by an allele

GENOTYPE Set of alleles possessed by an individual

HEREDITY Transmission of similarities and differences from the

parents to the offspring
VARIATIONS Differences that exist in the individuals of a species

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PHENOTYPE Appearance or manifestation of a character that is
genetically determined

HETEROZYGOTE An individual possessing two different alleles at a locus

HOMOZYGOTE An individual possessing two of the same alleles at a

locus Character/Feature An attribute or characteristic of
an organism.
DOMINANT An allele that expresses itself in homozygous or
ALLELE heterozygous condition

RECESSIVE An allele that expresses itself in homozygous or

ALLELE hemizygous condition

HOMOLOGOUS Chromosomes having similar shape , size and similar

CHROMOSOMES sequence of alleles
AUTOSOMES Chromosomes that are similar in males and females.

SEX Chromosomes responsible for sex determination

CHROMOSOMES
MONOHYBRID Cross involving inheritance of only one pair of
CROSS contrasting characters.

DIHYBRID CROSS Cross involving inheritance of two traits together

BACK Cross between offspring and parents

CROSS(OUT
CROSS) Example is a cross between F1 hybrid and Dominant
parent

F1 hybrid

All offspring are tall.

RECESSIVE Cross of F1 hybrid with recessive parent is called

BACK recessive back cross or specifically test cross.
CROSS/TEST Thus test cross is the crossing of an organism with an
CROSS unknown genotype to a homozygous recessive
organism called “tester”.

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RECIPROCAL Cross involving two crosses between same character but
CROSS with reversed sexes.

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MENDELIAN INHERITANCE OR MENDEL’S PRINCIPLES OF
INHERITANCE
It was during the mid-nineteenth century that headway was made in the
understanding of inheritance. Gregor Mendel, conducted hybridisation
experiments on garden peas for seven years (1856-1863) and proposed the laws
of inheritance in living organisms. 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, which gave greater credibility to the
data that he collected. Also, the confirmation of his inferences from experiments
on successive generations of his test plants, proved that his results pointed to
general rules of inheritance rather than being unsubstantiated ideas.
Mendel investigated characters in the garden pea plant that were manifested as
two opposing traits, e.g., tall or dwarf plants, yellow or green seeds. This allowed
him to set up a basic framework of rules governing inheritance, which was
expanded on by later scientists to account for all the diverse natural observations
and the complexity inherent in them.

Reasons of why Mendel’s work remained unnoticed for 34

years
1. The results were published in an obscure journal and remained unnoticed
2. The scientists were preoccupied with the controversy thrown up by “Darwin’s
Theory of Origin of Species”
3. Scientists of that period were ignorant about the cytological basis of heredity
4. Mendel’s concept was far ahead of his time
5. Mendel used mathematical basis to explain the results of cross breeding and
this was totally new and totally unacceptable to the biologists of that time

Rediscovery of Mendel’s work

Mendel’s work was rediscovered, long after his death in 1884, by three different
scientists Hugo DeVries from Holland, Carl Correns from Germany and Erich
von Tschermak from Austria in 1900
Bateson(1902) found that Mendel’s laws apply to animals as well. Bateson,
Punnett and subsequent workers found universal application of Mendel’s Laws.

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Mendel’s assumptions
Mendel maintained that each character is controlled by a factor. These factors
were present in all the cells of the body. Gametes transport these factors to the
next generation thus forming the physical connection between parents and
offspring. These hereditary factors are genes which are located in a linear fashion
in the chromosomes which act as hereditary vehicles. Genes form the chemical
bases of heredity.

Reasons for Mendel’s success

1. Due to his careful selection of Pisum sativum and good fortune.
2. There were several varieties available with quite distinct
characteristics.
3. The plants were easy to cultivate.
4. The reproductive structures were completely enclosed by the petals,
so that it normally self pollinated.
5. Artificial cross breeding between the varieties were possible and the
resultant hybrids were totally fertile. From the 34 varieties Mendel
selected 22 that showed clear cut differences in characters and used
them in his breeding experiments.
6. Mendel was fortunate that the genes coding for 7pairs of characters
were on different chromosomes.
7. Mendel worked on 1 trait at a time.
8. He kept a meticulous record of the observations he made during his
experiments.
Mendel’s method of working
1. He studied the inheritance of one character at a time whereas earlier
scientists considered the organism as a whole.
2. Experiments were carried out up to the second and third generations.
3. Statistical records and the analysis of all experiments were
maintained.
4. Cross breeding was done between parents of pure lines.
5. Pure lines of parents were ascertained by a series of self crossing
tests between the progeny of each successive generation.
6. Mendel’s experiments had large sample sizes.

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Advantages of selecting pea plants
1. It is an annual so study of several generations could be done in a
short time.
2. Flowers are complete and predominantly self pollinating.
3. Plants are homozygous due to self pollination and pure lines are
available.
4. Plants have a number of easily detectable characters with dominant
and recessive traits.
5. Large number of seeds are produced in one generation.

/Cotelydon

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 INHERITANCE OF ONE GENE- MONOHYBRID CROSS
Let us take the example of one such hybridisation experiment carried out by
Mendel where he crossed tall and dwarf pea plants to study the inheritance of one
gene. He collected the seeds produced as a result of this cross and grew them to
generate plants of the first hybrid generation. This generation is also called the
Filial1 progeny or the F1. Mendel observed that all the F1 progeny plants were
tall, like one of its parents; none were dwarf. He made similar observations for
the other pairs of traits – he found that the F1 always resembled either one of the
parents, and that the trait of the other parent was not seen in them.

Mendel then self-pollinated the tall F1 plants and to his surprise found that in the
Filial2 generation some of the offspring were ‘dwarf’; the character that was not
seen in the F1 generation was now expressed. 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, that is all the offspring were either tall or dwarf, none were of
“inbetween” height. Similar results were obtained with the other traits that he
studied: 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. Based
on these observations, Mendel proposed that something was being stably passed
down, unchanged, from parent to offspring through the gametes, over successive
generations. He called these things as ‘factors’. Nowadays, we call them as genes.
Genes, therefore, are the units of inheritance. They contain the information that is
required to express a particular trait, in an organism. Genes which code for a pair

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of contrasting traits are known as alleles, i.e., they are slightly different forms of
the same gene.
If we use alphabetical symbols for each gene, then the capital letter is used for the
trait expressed at the F1 stage and the small alphabet for the other trait. For
example, in case of the character of height, T is used for the Tall trait and t for the
‘dwarf ’, and T and t are alleles of each other. Hence, in plants the pair of alleles
for height would be TT, Tt or tt. Mendel also proposed that in a true breeding, tall
or dwarf pea variety the allelic pair of genes for height are identical or
homozygous, TT and tt, respectively. TT and tt are called the genotype of the
plant while the descriptive terms tall and dwarf are the phenotype.
As Mendel found the phenotype of the F1 heterozygote Tt to be exactly like the
TT parent in appearance, he proposed that in a pair of dissimilar factors, one
dominates the other (as in the F1 ) and hence is called the dominant factor while
the other factor is recessive. In this case T (for tallness) is dominant over t (for
dwarfness), that is recessive. He observed identical behaviour for all the other
characters/trait-pairs that he studied.
It is convenient (and logical) to use the capital and lower case of an alphabetical
symbol to remember this concept of dominance and recessiveness (Do not use T
for tall and d for dwarf because you will find it difficult to remember whether T
and d are alleles of the same gene/character or not).
Alleles can be similar as in the case of homozygotes TT and tt or can be
dissimilar as in the case of the heterozygote Tt. Since the Tt plant is heterozygous
for genes controlling one character (height), it is a monohybrid and the cross
between TT and tt is a monohybrid cross.
From the observation that the recessive parental trait is expressed without any
blending in the F2 generation, we can infer that, when the tall and dwarf plant
produce gametes, by the process of meiosis, the alleles of the parental pair
separate or segregate from each other and only one allele is transmitted to a
gamete. This segregation of alleles is a random process and so there is a 50 per
cent chance of a gamete containing either allele, as has been verified by the results
of the crossings. In this way the gametes of the tall TT plants have the allele T
and the gametes of the dwarf tt plants have the allele t.
During fertilisation the two alleles, T from one parent say, through the pollen, and
t from the other parent, then through the egg, are united to produce zygotes that
have one T allele and one t allele. In other words the hybrids have Tt. Since these
hybrids contain alleles which express contrasting traits, the plants are

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heterozygous. The production of gametes by the parents, the formation of the
zygotes, the F1 and F2 plants can be understood from a diagram called Punnett
Square. It was developed by a British geneticist, Reginald C. Punnett. It is a
graphical representation to calculate the probability of all possible genotypes of
offspring in a genetic cross.
The possible gametes are written on two sides, usually the top row and left
columns. All possible combinations are represented in boxes below in the squares,
which generates a square output form. The Punnett Square shows the parental tall
TT (male) and dwarf tt (female) plants, the gametes produced by them and, the
F1 Tt progeny. The F1 plants of genotype Tt are self-pollinated. The F1 plant of
the genotype Tt when self-pollinated, produces gametes of the genotype T and t
in equal proportion.
When fertilisation takes place, the pollen grains of genotype T have a 50 per cent
chance to pollinate eggs of the genotype T, as well as of genotype t. Also pollen
grains of genotype t have a 50 per cent chance of pollinating eggs of genotype T,
as well as of genotype t. As a result of random fertilisation, the resultant zygotes
can be of the genotypes TT, Tt or tt.
From the Punnett square it is easily seen that 1/4th of the random fertilisations
lead to TT, 1/2 lead to Tt and 1/4th to tt. Though the F1have a genotype of Tt, but
the phenotypic character seen is ‘tall’ At F2, 3/4th of the plants are tall, where
some of them are TT while others are Tt. Externally it is not possible to distinguish
between the plants with the genotypes TT and Tt. Hence, within the genopytic
pair Tt, only one character ‘T’ tall is expressed. Hence the character T or ‘tall’ is
said to dominate over the other allele t or ‘dwarf’ character. It is thus due to this
dominance of one character over the other that all the F1 are tall (though the
genotype is Tt) and in the F2 3/4th of the plants are tall (though genotypically 1/2
are Tt and only 1/4th are TT). This leads to a phenotypic ratio of 3/4th tall : (1/4
TT + 1/2 Tt) and 1/4th tt, i.e., a 3:1 ratio, but a genotypic ratio of 1:2:1.
The 1/4 : 1/2 : 1/4 ratio of TT: Tt: tt is mathematically condensable to the form of
the binomial expression (ax +by)2 , that has the gametes bearing genes T or t in
equal frequency of ½. The expression is expanded as given below :  (1/2T + 1/2
t)2 = (1/2T + 1/2t) X (1/2T + 1/2t) = 1/4 TT + 1/2Tt + 1/4 tt. Mendel self-pollinated
the plants and found that dwarf F2 plants continued to generate dwarf plants in F3
and F4 generations. He concluded that the genotype of the dwarfs was
homozygous – tt.

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The genotypic ratios can be calculated using mathematical probability, by simply
looking at the phenotype of a dominant trait, it is not possible to know the
genotypic composition. That is, for example, whether a tall plant from F1 or F2
has TT or Tt composition, cannot be predicted. Therefore, to determine the
genotype of a tall plant at F2, Mendel crossed the tall plant from F2 with a dwarf
plant. This he called a test cross. In a typical test cross an organism (pea plants
here) showing a dominant phenotype (and whose genotype is to be determined) is
crossed with the recessive parent instead of self-crossing. The progenies of such
a cross can easily be analysed to predict the genotype of the test organism.

Based on his observations on monohybrid crosses Mendel proposed two general

rules to consolidate his understanding of inheritance in monohybrid crosses.
Today these rules are called the Principles or Laws of Inheritance: the First Law
or Law of Dominance and the Second Law or Law of Segregation

Law of Dominance
Characters are controlled by discrete units called factors. Factors occur in pairs.
When two unlike unit factors responsible for a single character, are present
in a single individual(F1 hybrid), only one unit factor expresses itself. The
one which expresses is said to be dominant and the other one which fails to
express is called recessive. The law of dominance is used to explain the
expression of only one of the parental characters in a monohybrid cross in the F1
and the expression of both in the F2 . It also explains the proportion of 3:1
obtained at the F2

Law of Segregation
This law is based on the fact that the alleles do not show any blending and that
both the characters are recovered as such in the F2 generation though one of these
is not seen at the F1 stage. Though the parents contain two alleles during

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gamete formation, the factors or alleles of a pair segregate from each other
such that a gamete receives only one of the two factors. Of course, a
homozygous parent produces all gametes that are similar while a heterozygous
one produces two kinds of gametes each having one allele with equal proportion.

INHERITANCE OF TWO PAIRS OF CONTRASTING

CHARACTERS: DIHYBRID CROSS
Mendel also worked with and crossed pea plants that differed in two characters,
as is seen in the cross between a pea plant that has seeds with yellow colour and
round shape and one that had seeds of green colour and wrinkled shape. Mendel
found that the seeds resulting from the crossing of the parents, had yellow
coloured and round shaped seeds. Yellow colour was dominant over green and
round shape dominant over wrinkled. These results were identical to those that he
got when he made separate monohybrid crosses between yellow and green seeded
plants and between round and wrinkled seeded plants.
Let us use the genotypic symbols Y for dominant yellow seed colour and y for
recessive green seed colour, R for round shaped seeds and r for wrinkled seed
shape. The genotype of the parents can then be written as RRYY and rryy. The
gametes RY and ry unite on fertilisation to produce the F1 hybrid RrYy. When
Mendel self hybridised the F1 plants he found that 3/4th of F2 plants had yellow
seeds and 1/4th had green. The yellow and green colour segregated in a 3:1 ratio.
Round and wrinkled seed shape also segregated in a 3:1 ratio; just like in a
monohybrid cross.

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Law of Independent Assortment
In the dihybrid cross the phenotypes round, yellow; wrinkled, yellow; round,
green and wrinkled, green appeared 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) (3 Yellow : 1 Green) = 9 Round, Yellow : 3 Wrinkled,
Yellow: 3 Round, Green : 1 Wrinkled, Green
Based upon such observations on dihybrid crosses (crosses between plants
differing in two traits) Mendel proposed a second set of generalisations that we
call Mendel’s Law of Independent Assortment. The law states that ‘when two
pairs of traits are combined in a hybrid, segregation of one pair of characters
is independent of the other pair of characters’

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The Punnett square can be effectively used to understand the independent
segregation of the two pairs of genes during meiosis and the production of eggs
and pollen in the F1 RrYy plant. Consider the segregation of one pair of genes R
and r. Fifty per cent of the gametes have the gene R and the other 50 per cent have
r. Now besides each gamete having either R or r, it should also have the allele Y
or y. The important thing to remember here is that segregation of 50 per cent R
and 50 per cent r is independent from the segregation of 50 per cent Y and 50 per
cent y. Therefore, 50 per cent of the r bearing gametes has Y and the other 50 per
cent has y. Similarly, 50 per cent of the R bearing gametes has Y and the other 50
per cent has y. Thus there are four genotypes of gametes (four types of pollen and
four types of eggs). The four types are RY, Ry, rY and ry each with a frequency
of 25 per cent or 1/4th of the total gametes produced. When you write down the
four types of eggs and pollen on the two sides of a Punnett square it is very easy
to derive the composition of the zygotes that give rise to the F2 plants
CRITICAL APPRECIATION OF MENDEL’S LAWS
1. Law of dominance is not universal as some characters may show
incomplete or co dominance
2. Law of segregation is confirmed by cytological studies.
3. Law of independent assortment is not universally applicable as in the
case of 2 / more characters present on to the same homologues being passed
on to the same gamete and it is seen that linkage of genes also defies this
law.
BIOLOGICAL IMPORTANCE OF MENDELISM
1. Improvement of plant varieties and races by selection and
hybridisation.
2. Improvement of and production of new varieties of domestic and
game animals.
3. Improvement of human race by the study of family pedigree to
counsel genetically.
4. Inheritance of blood groups help in solving disputed parentage of a
child.

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 DEVIATION FROM MENDELISM
After the rediscovery of Mendel’s laws, hereditary experiments were conducted
on large number of animals and plants, and numerous exceptions to mendelian
ratios were observed. These exceptions can be explained by suitably modifying
Mendel’s laws.
1. INCOMPLETE DOMINANCE OR BLENDING INHERITANCE (1:2:1
RATIO)
In incomplete dominance, the genes of an allelomorphic pair are not related as
dominant or recessive but express themselves when present together in the hybrid.
As a result the F1hybrids exhibit a character intermediate to the effect of the two
parental alleles due to the blending of the product of the two alleles.
When experiments on peas were repeated using other traits in other plants, it was
found that sometimes the F1 had a phenotype that did not resemble either of the
two parents and was in between the two.
Example 1: The inheritance of flower colour in the dog flower (snapdragon or
Antirrhinum sp.) is a good example to understand incomplete dominance.  In a
cross between true-breeding red flowered (RR) and true breeding white-flowered
plants (rr), the F1 (Rr) was pink.
When the F1 was self-pollinated the F2 resulted in the following ratio 1 (RR)
Red: 2 (Rr) Pink: 1 (rr) White. Here the genotype ratios were exactly as we
would expect in any Mendelian monohybrid cross, but the phenotype ratios had
changed from the 3:1, dominant : recessive ratio. What happened was that R was
not completely dominant over r and this made it possible to distinguish Rr as pink
from RR (red) and rr (white).

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Why are some alleles dominant and some recessive?
Every gene, as you know by now, 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 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 allele produces the normal enzyme that is needed for the
transformation of a substrate S. Theoretically, the modified allele could be
responsible for production of –
(i) the normal/less efficient enzyme, or (ii) a non-functional enzyme, or (iii) no
enzyme at all
In the first case, the modified allele is equivalent to the unmodified allele, i.e., it
will produce the same phenotype/trait, i.e., result in the transformation of substrate
S. Such equivalent allele pairs are very common. But, if the allele produces a non-
functional enzyme or no enzyme, the phenotype may be effected. The
phenotype/trait will only be dependent on the functioning of the unmodified
allele. The unmodified (functioning) allele, which represents the original
phenotype is the dominant allele and the modified allele is generally the recessive
allele. Hence, in the example above the recessive trait is seen due to non-
functional enzyme or because no enzyme is produced.

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Example 2: The Andalusian fowl has three varieties splashed white, black and
blue. A cross between a pure splashed white male fowl and a pure black female
fowl yields, hybrid fowls with blue colour, in the F1 generation. When the blue
hybrid fowls are crossed, with each other, the F2 generation shows fowls with
splashed white, blue and black colour in the ratio 1:2:1.

Example 3: In the plant Mirabilis jalapa, commonly called as four o’ clock plant,
the inheritance of flower colour is also an example for incomplete dominance.

2. CO-DOMINANCE
Both the genes of an allelomorphic pair express themselves equally in the F1
hybrids. In F2 the phenotypic and genotypic ratios match-1:2:1. The alleles of a
pair which are able to express themselves independently when present together in
a hybrid are co- dominant. In the case of co-dominance the F1 generation
resembles both parents.
Example 1: A good example is different types of red blood cells that determine
ABO blood grouping in human beings. ABO blood groups are controlled by the
gene I. The plasma membrane of the red blood cells has sugar polymers that
protrude from its surface and the kind of sugar is controlled by the gene.
The gene (I) has three alleles, I A, I Band i. The alleles IA and IB produce a slightly
different form of the sugar while allele i doesn’t produce any sugar. Because
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humans are diploid organisms, each person possesses any two of the three I gene
alleles. I A and I B are completely dominant over i, in other words when I A and i
are present only I A expresses (because i does not produce any sugar), and when I
B
and i are present I B expresses. But when I A and I B are present together they
both express their own types of sugars: this is because of co-dominance. Hence
red blood cells have both A and B types of sugars. Since there are three different
alleles, there are six different combinations of these three alleles that are possible
a total of six different genotypes of the human ABO blood types
The example of ABO blood grouping also provides a good example of multiple
alleles. Here one can see that there are more than two, i.e., three alleles, governing
the same character. Since in an individual only two alleles can be present, multiple
alleles can be found only when population studies are made.

Example 2: In cattle R stands for red coat colour and W stands for white coat
colour. When red cattle -RR crossed with white cattle -WW the F1 hybrid have
roan colour with genotype RW. In F2 generation red, roan and white are produced
in the ratio 1:2:1 (1RR:2RW:1WW).

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Exapmle 3: co-dominance of MN blood group

Example 4: Co-dominance of Sickle - cell Haemoglobin

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Differences between incomplete dominance and codominance dominance
INCOMPLETE DOMINANCE CODOMINANCE
The expression of hybrid genotype is Both the alleles express themselves
intermediate to the phenotypes equally
produced by each of the alleles
produced separately
Expressed phenotype is new and no Expressed phenotype is the
allele has its own effect. combination of two phenotypes of the
two alleles
Result of quantitative effect of alleles No quantitative effect found
Mixing of phenotypic effect of alleles No mixing effect of alleles is found
is found

3. MULTIPLE ALLELES
These are multiple alternatives of the same gene which influence the same
character and produce different expressions in different individuals of a species
or population.
Characteristics of multiple alleles
1. arise by mutation of the wild type
2. Occupy the same locus on the homologous chromosomes 3
3. Only one member of a series is present on a given chromosome and only
two members in an individual
4. Regulate the same character with different degrees of expression
5. Do not undergo crossing over
6. Wild type expression is dominant and all other expressions are recessive
to the wild type but may be related as dominant, recessive or co-
dominant among themselves.
Example 1: HUMAN BLOOD GROUPS
Four types of blood groups determined by the presence of a specific glycoprotein
called antigen on the surface of RBCs and are determined by multiple alleles I A,
I B , I O located on the 9 th chromosome. I O is wild type and recessive and I A and
I B dominate over I O while I A and I B are codominant with each other.

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4. POLYGENIC OR QUANTITATIVE INHERITANCE
It is a pattern of inheritance where a single phenotypic trait is governed by more
than one pair of non-allelic genes on different loci and have a cumulative or
additive effect. Polygenes are called multiple factors or quantitative genes or
cumulative genes. Hence, there is formation of many possible genotypes as a
result of which such traits show a wide range of phenotypes. Such a trait is called
polygenic or multifactor trait showing continuous variations and the pattern of
inheritance is called polygenic or quantitative inheritance.

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In this inheritance, the F1 individuals are very much similar to one another and
are usually intermediate between two parents. A cross between two F1 individuals
results in a highly variable F2 progeny in which a few individuals resemble one
grand parent, a few resemble the other grandparent and the remaining ranging
between the two.
Example 1: A classical example of quantitative inheritance is the inheritance of
skin colour in human beings.

The skin colour is known to be under the control of at least three pairs of genes.
Aa, Bb and Cc located in different chromosomes. The genes for dark skin colour
A, B and C are incompletely dominant. The darkness of skin colour is
proportionate to the sum of the dominant genes present. A very dark person, will
have all the six dominant genes (AA, BB and CC). A person with very light skin
colour has all the six recessive genes (aa, bb, cc)
When a man with a homozygous condition for dark skin marries a woman who is
homozygous for light skin colour, their progeny in the F1 generation will have an
intermediate colour in the skin different from that of both the parents. This is
called mulatto colour. The F1 hybrids form 8 different types of gametes in each
sex, giving rise to 64 combinations in the F2 generation. Among these 7 genotypes
and as many phenotypes can be recognized.
The skin colour of the individuals in the F2 generation varies according to the
number of genes which they inherit, for skin pigmentation. The skin colour ranges
from pure black (AABBCC) in 1/64 individuals very dark brown in 6/64
individuals, dark brown in 15/64 individuals, mulatto (or intermediate (AaBbCc)
in 20/64 individuals, light brown in 15/64 individuals, very light brown in 6/64
individuals and pure white (aabbcc) in 1/64 individuals.

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In this situation, each dominant gene directs the synthesis of the same amount of
the pigment melanin, which is responsible for skin colour. Hence, the shade of the
skin colour is directly related to the number of dominant genes for skin colour,
present in the individual. From the results of this cross it is possible to explain
why children with darker and lighter skin colour can be born to parents who are
heterozygous for the genes responsible for skin colour. Polygenic inheritance was
first described by Sir Francis Galton in 1883 in case of humans.

5. PLEIOTROPY OR PLEIOTROPISM
It is a phenomenon where a given gene has multiple phenotypic effects. As a
result, the gene not only influences the trait which it expresses, but also influences
many other traits. Such a gene is called pleiotropic gene. Pleiotropic genes
generally do not have the same influence on all the traits that they control. A
pleiotropic gene may cause an evident expression of its specific trait, representing
a major effect or a less evident expression of its other traits, representing a
secondary effect.
An example of pleiotropy is seen in the sweet pea plant. Here, the genes that
control the colour of the flower also control the colour of the seed coat and
appearance of red spots in the axils of the leaves.

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In Drosophila, the gene that controls wing size also affects the nature of balancers,
eye colour, fertility and life span of the insect.
Another example of pleiotropy is the disease sickle cell anaemia that affects the
production of haemoglobin and shape of the RBC in human beings. The gene
involved in sickle cell condition codes for the formation of normal haemoglobin.
(i) Phenylketonuria (PKU) as an example of pleiotropism
It is an autosomal recessive character controlled by a mutant gene present on the
12th chromosome. The mutant gene fails to code for the enzyme Phenylalanine
Hydroxylase(PAH) needed for the normal metabolism of Phe to
TYROSINE(Tyr). This results in the accumulation of Phe in body fluids like
blood, sweat and cerebrospinal fluid and appearance of an abnormal breakdown
product phenylketone in urine. This accumulation of Phe and breakdown
products cause severe brain damage leading to mental retardation(Phenyl
Pyruvic Idiocy or Amaurotic Idiocy). Such persons are fair-skinned with blonde
hair and blue eyes because of failure of melanin synthesis

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Example 2: Starch synthesis in pea seeds
Starch synthesis in pea (Pisum sativum) seeds is controlled by one gene. It has
two alleles (B and b). Starch is synthesised effectively by BB homozygotes and
therefore, large starch grains are produced. In contrast, bb homozygotes have
lesser efficiency in starch synthesis and produce smaller starch grains. After
maturation of the seeds, BB seeds are round and the bb seeds are wrinkled.
Heterozygotes produce round seeds, and so B seems to be the dominant allele.
But, the starch grains produced are of intermediate size in Bb seeds. So if starch
grain size is considered as the phenotype, then from this angle, the alleles show
incomplete dominance. Thus the gene which controls the shape of the seed also
controls the size of the starch grain (large, intermediate and small)

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 PEDIGREE ANALYSIS
The idea that disorders are inherited has been prevailing in the 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 pattern of traits in human beings began. Since it is evident that control
crosses that can be performed in pea plant or some other organisms, are not
possible in case of human beings, study of the family history about inheritance of
a particular trait provides an alternative. Such an analysis of traits in a several of
generations of a family is called the pedigree analysis. In the pedigree analysis the
inheritance of a particular trait is represented in the family tree over generation.
In human genetics, pedigree study provides a strong tool, which is utilised to trace
the inheritance of a specific trait, abnormality or disease. Some of the important
standard symbols used in the pedigree analysis have been shown.

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USES OF PEDIGREE ANALYSIS
1. Helps to predict the possible genotypes by knowing phenotypes only.
2. Helps to study pattern of inheritance of a specific trait, abnormality or
disease and whether the trait is dominant or recessive.
3. The possible genetic make up of a person for a trait can be known.
4. It helps genetic counsellors to advise couples about the possibility of having
genetically defective offspring.
5. In certain cases it may help identifying the genotypes of the offspring yet
to be born.
6. Helps to identify the possible origin of the defective gene in the family or
in a population.

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 CHROMOSOMAL THEORY OF INHERITANCE
Mendel published his work on inheritance of characters in 1865 but for several
reasons, it remained unrecognised till 1900. 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 actors 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. Also, by this time
due to advancements in microscopy that were taking place, 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).
By 1902, the chromosome movement during meiosis had been worked out.
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 things to remember are that chromosomes as well
as genes occur in pairs. The two alleles of a gene pair are located on homologous
sites on homologous chromosomes.

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Salient features of chromosomal theory of inheritance
1. Somatic cells developing from the zygote are diploid.
2. Each diploid cell consists of paternal and maternal sets of
chromosomes.
3. Two chromosomes of one type constitute the homologues.
4. The chromosomes retain their structural uniqueness, individuality
and continuity throughout the life cycle of the organism.

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 5. Each chromosome carries specific determiners, or Mendelian factors
or genes that play a definite part in the development of an organism
from the zygote.
6. Genes are located on the chromosomes in a linear order.
7. The behaviour of chromosomes during meiosis at the time of
gametogenesis provides the evidence for the presence of genes on
the chromosomes.
8. This also explains the Laws of Segregation and Independent
Assortment at the time of gamete formation.
Test cross results and chromosomal theory
The progeny of a test cross between a dihybrid heterozygous yellow round F1
offspring and double recessive green wrinkled parent give rise to two parental
types and two recombinants in equal proportion i.e., 25% each. These results
confirm the proportion of each type of gametes produced from F1 heterozygote
by independent assortment of chromosomes carrying the alleles.

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 LINKAGE OR COUPLING
Morgan carried out several dihybrid crosses in Drosophila to study genes that
were sex-linked. The crosses were similar to the dihybrid crosses carried out by
Mendel in peas. For example, Morgan hybridised yellow-bodied, white-eyed
females to brown bodied, red-eyed males and inter-crossed their F1 progeny. He
observed that the two genes did not segregate independently of each other and the
F2 ratio deviated very significantly from the 9:3:3:1 ratio (expected when the two
genes are independent). 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) (Figure 5.11, Cross A). 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 per cent recombination while white
and miniature wing showed 37.2 per cent recombination (Figure 5.11, Cross B).
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. Today genetic maps are extensively
used as a starting point in the sequencing of whole genomes as was done in the
case of the Human Genome Sequencing Project.

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Linkage definition
Each chromosome bears many genes and are inherited as a unit without
undergoing independent assortment during meiosis as the genes do in case of non
homologous chromosomes. The inheritance of genes together and the retention of
the parental combination in the offspring is called linkage. Such genes are linked
genes and the characters controlled by them are said to be linked. Morgan
defined linkage as the tendency of genes present in the same chromosome to

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remain in their original combination and to enter together in the same
gamete.
Significance of linkage
1. The genetic map or linkage map is the map of linked genes on a
chromosome plotted in a specific sequence according to their relative
distances.
2. The distances indicate the frequency of their crossing over.
Types of linkage
Based on the occurrence of non parental combinations, linkage can be
complete(100%) or incomplete.
1. Complete Linkage: Genes showing complete linkage are
transmitted together in their parental combination to the same
gamete. Non parental combinations are not formed. Genes showing
complete linkage are closely located in the chromosome.
2. Incomplete linkage: Genes showing incomplete linkage produce
some percentage of non-parental combinations because these genes
get separated in some cases. This is called genetic recombination due
to crossing over. The chances of separation of linked genes depends
on the distance between them. The greater the distance between
them, more are the chances of their separation due to exchange of
segments between homologous chromosomes.

CROSSING OVER AND RECOMBINATION

The phenomenon of separation of linked genes to form new combination of
parental genes as seen in incomplete linkage is called recombination of genes and
the offspring with new combination of characters are called recombinants or
cross – overs. Crossing over can be defined as the physical process of reciprocal
exchange of corresponding parts between the non-sister chromatids of
homologous chromosomes of a pair that results in the new combinations of alleles
of linked genes.

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Significance of crossing over
1. Leads to new combination of genes and is thus responsible for
genetic variability in sexually reproducing organisms.
2. Variability forms the basis of evolution.
3. Percentage of crossing over or recombination is used in calculating
the distance between the genes on the chromosomes and determining
their sequence.
4. Useful recombinations are picked up by plant and animal breeders
for developing improved varieties.
5. It provides evidence that genes are arranged in a linear fashion in
chromosomes.
6. Chromosome maps called linkage maps are prepared by determining
percentage of recombination of linked genes.

SEX DETERMINATION
The mechanism of sex determination has always been a puzzle before the
geneticists. The initial clue about the genetic/ chromosomal mechanism of sex
determination can be traced back to some of the experiments carried out in insects.
In fact, the cytological observations made in a number of insects led to the
development of the concept of genetic/chromosomal basis of sex determination.
Henking (1891) could trace a specific nuclear structure all through
spermatogenesis in a few insects, and it was also observed by him that 50 per cent
of the sperm received this structure after spermatogenesis, whereas the other 50
percent sperm did not receive it. Henking gave a name to this structure as the X
body but he 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. It was also
observed that in a large number of insects the mechanism of sex determination is
of the XO type, i.e., all eggs bear an additional X-chromosome besides the other
chromosomes (autosomes).
On the other hand, some of the sperms bear the X-chromosome whereas some do
not. Eggs fertilised by sperm having an X-chromosome become females and,
those fertilised by sperms that do not have an X-chromosome become males. Due
to the involvement of the X-chromosome in the determination of sex, it was
designated to be the sex chromosome, and the rest of the chromosomes were

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named as autosomes. It is the phenomenon where in the sex of an individual
organisms becomes fixed soon after the formation of a zygote, due to the specific
composition of sex chromosomes. The process of sex determination by allosomes
is called genetic or chromosomal sex determination. It is brought about by
heterogametes, which is the formation of two kinds of gametes in one of the two
sexes. There are four mechanisms of chromosomal sex determination and they are
as follows:- XX-XY Type, XX-XO Type, ZW-ZZ Type and ZO-ZZ Type.
Sex in animals can be defined as the hereditary difference between male and
female individuals of the same species. It behaves as a Mendelian Factor. Usually,
genes determining sex are located on a special pair of chromosomes. These are
called sex chromosomes.
Chromosomes can be basically of 2 types:
1. Autosomes: These carry genes for body(somatic characters) and
general physiology and are represented by A.
2. Sex chromosomes or Allosomes: These carry genes for determining
the sex. These are also called idiochromosomes and are represented
by X and Y or Z and W chromosomes.
Types of sex determination
1. XX-XY Type
This type of sex determination occurs in insects and mammals including
human beings. Here, the females have two identical homologous sex
chromosomes designated as XX and the males have two dissimilar sex
chromosomes designated as X and Y.
Thus, females are homogametic, producing only one type of ovum, and
males are heterogametic, producing two types of gametes: half carrying
the X chromosome and the other half carrying the Y chromosome.
In Drosophila the Y chromosome has a small hook like projection. In some
plants such as Melandrium alba the Y chromosome is distinctly longer
than the X chromosome. In humans, the Y chromosome is shorter in length
than the X chromosome.
Hence, in all examples of XX-XY type of allosomes, the females are
homogametic and the males are heterogametic. The male gametes will be
of two types and this condition is called digamety. The X-carrying sperms
are called gynosperms and the Y carrying sperms are called androsperms.
In all such cases, sex gets determined at the time of fertilization and
depends on the type of sperm that fuses with the ovum. If the X-carrying

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 ovum is fertilised by a X-carrying sperm the resulting zygote will have a
sex chromosome composition of XX. Such a zygote develops into a female.
If the X carrying ovum is fertilised by a Y-carrying sperm. The resulting
zygote will have a sex chromosome composition of XY. Such a zygote
develops into a male.

(a) Sex determination in humans

(b) Sex determination in Drosophila

In Drosophila, the total number of chromosomes is 8, of which 6 are autosomes,
common to both males and females.The 4 th pair is the sex chromosomes. In
males, these are represented by XY. The karyotype of the male is 6+XY. In
females, sex chromosomes are XX and their karyotype is 6+XX. Ova produced
by females are similar having 3+X chromosomes and the sperms produced by
males are of 3+X and 3+Y types. Thus males are heterogametic while the females
are homogametic.

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2. XX-XO Type
In this type, the females have two homomorphic sex chromosomes XX and hence
they are homogametic. The males have one sex chromosome and are represented
as XO. If the X-carrying ovum is fertilised by a X-carrying sperm, the resulting
zygote XX will develop into a female. If the sperm carrying no sex chromosomes
unites with the ovum, the zygote XO will develop into a male. The XX-XO type
of sex determination is seen in some insects such as bugs, cockroaches and
grasshoppers.

3. ZW-ZZ Type
In this type, the females carry two different types of sex chromosomes (ZW) and
are heterogametic while males carry identical sex chromosomes (ZZ) and are
homogametic. The ova will be of two types: Z carrying and W carrying while all
sperms will be only Z-carrying. The ovum will have a sex chromosome
composition of ZZ and it develops into a male. A zygote with ZW chromosomes,
formed by a fusion of Z-carrying sperm with a W-carrying ovum, results in the
formation of a female offspring. This type of sex determination occurs in some
insects like butterflies and moths. It is also known to occur in several examples of
fishes, reptiles and birds.

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4. ZO-ZZ Type
In this type, the females have only one sex chromosome and hence represented as
ZO. Females are heterogametic. Males carry two identical sex chromosomes
designated ZZ. Males are homogametic. On fertilization by a Z-carrying sperm
the Z-carrying ovum would develop into a male (ZZ) and on fertilization, the Z-
lacking ovum would develop into a female. This type of sex determination is seen
in some moths and butterflies.

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 5. Haplodiploid mechanism of sex determination

Haplodiploidy is a sex-determination system in which males develop from

unfertilized eggs and are haploid, and females develop from fertilized eggs and
are diploid. Seen in honey bees, ants, wasps and saw flies.
In honeybees the drones (males) are entirely derived from the queen, their mother.
The diploid queen has 32 chromosomes and the haploid drones have 16
chromosomes.
Drones produce sperm cells that contain their entire genome, so the sperm are all
genetically identical except for mutations. The male bees' genetic makeup is
therefore entirely derived from the mother, while the genetic makeup of the
female worker bees is half derived from the mother, and half from the father.
Thus, if a queen bee mates with only one drone, any two of her daughters will
share, on average, 3/4 of their genes. The diploid queen's genome is recombined
for her daughters, but the haploid father's genome is inherited by his daughters "as
is".

Peculiarities of haplodiploidy
1. Sperms are produced by mitosis.
2. The male has no father but has a grandfather.
3. A male cannot have sons but can have grandsons.
4. If a queen bee mates with only one drone, any two of her daughters will
share, on average, 3/4 of their genes.

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 SEX-LINKED INHERITANCE
The sex-chromosome or the X-chromosome carries the gene for sex determination
and also some genes for some somatic characters. The genes for somatic
characters on the sex-chromosome are called sex-linked genes. The characters
which are controlled by sex-linked genes are called sex-linked characters and
their inhertance is called sex-linked inheritance or sex-linkage.

1. Sex-linked Inheritance in Drosophila

In the course of breeding experiments with the normal wild type Drosophila with
red eyes, T.H. Morgan (1910) observed a mutant in the population with white
eyes. When this new white eyed variety was crossed with the red-eyed type, the
results from the reciprocal cross of white-eyed male and red-eyed female were
different from that obtained from red-eyed male with white-eyed female. From
the cross of white eyed-male with red-eyed female, the F1 flies were red-eyed in
both sexes. When these were inbred, one-fourth of the F2 offspring were white-
eyed indicating that red and white eye colours were due to a pair of alleles of
which red appears as the dominant one. Besides, in F2 offspring, all females were
red-eyed whereas half the males were red-eyed and the other half white-eyed.

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On the other hand, when a red-eyed male is crossed with a white-eyed female, the
results were different. In F1 offspring, females were red-eyed and males were
white-eyed. When the latter were bred together, their F2 progeny consisted of red-
eyed and white-eyed flies in equal number in both the sexes.

The first mutant observed was a male as it has only one X chromosome and is in
hemizygous condition wherein there is no corresponding gene in the Y
chromosome to mask the expression of the white eye colour gene; and this mutant
got his X chromosome from his mother. Sex-linked genes are regularly
transmitted from mother to son and never from father to son. Like eye colour, the
genes for wing length are also sex linked in Drosophila. The allele for normal
wing dominates over that of the miniature wing and its inheritance is similar to
that of eye colour.

Criss - cross inheritance

According to Mendel’s Laws, the results of reciprocal crosses are expected to be

identical but it is not so as seen in the cross between red eyed female and white
eyed male. Morgan noted that red eyes appeared in both male and female

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Drosophila and in the cross between F2 white eyed female and red eyed male all
the males were white eyed.

Thus, it is evident that:

1. Gene for eye - colour is located on the X chromosome
2. Male transmits its X chromosome to the daughters and female transmits its
X chromosome to both sons and daughters and this is called criss - cross
inheritance.
Significance of criss-cross inheritance
1. It helps in establishing relationship between genes and sex chromosomes
and provides evidence that sex linked genes are located on the X
chromosome.
2. It helps in the understanding of the mechanism of sex-linked disorders.

2. Red-green colour-blindness in man

Perhaps the best known example of sex-linkage in man is the colour blindness.
Several types of colour-blindness are known, but the most common type is red-
green blindness, which is an X-linked recessive trait. Persons suffering from this
colour blindness cannot differentiate between the red colour and the green colour.
Individually, the red colour blindness is referred as protanopia whereas the green
colour blindness is known as deuteranopia.

The genotype for normal vision may be symbolized by (XX), and colour blindness
by (XX’). X’ indicates the sex-linked recessive gene for colour blindness. If a
colour blind man (X’Y) marries a normal woman (XX), in the F1 generation all
male progeny (sons) will be normal (XY). The female progeny (daughters) though
will show normal phenotype but genetically they will be heterozygous (XX).
Since these daughters bear the recessive gene of colour blindness, they are the
carriers of the trait.

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If such a carrier woman with normal vision (heterozygous for colour blindness)
marries a normal man (XY), the following progeny may be expected in the F2
generation: Among the daughters, 50% are normal and 50% are carriers for the
diseases; among sons, 50% are colour blind and 50% are with normal vision.
Again, if a carrier woman (XX’) marries a colour blind man (X Y), the following
progeny will be expected in the F1 generation. Among daughters, 50% are colour
blind and 50% are the carriers of this disease; and among the sons, 50% are colour
blind and another 50% are with normal vision.

If the colour-blind woman (XX) marries a normal man (XY), the resulting male
progeny (sons) in F2 generation will be all colour blind, and the female progeny
(daughters) will be all carriers of colour-blindness. Thus, the occurrence of
colour-blind man will be more frequent than the colour-blind woman.

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3. Haemophilia in man
Another sex-linked recessive gene in man is that for Haemophilia or bleeding. In
this type, blood fails to clot easily on exposure to air, so that even minor injuries
may cause prolonged bleeding leading to death. The trait was first observed in a
European Royal Family; Queen Victoria (1819 – 1901) herself was a carrier of
this recessive gene. One of her sons, Leopold, Duke of Albany, died of
haemophilia, when he was only 31 years. The pedigree record of Queen Victoria
reveals that she has transmitted the disease to two of her daughters, as some of
their (daughters’) male descendants were also haemophiliacs.
A woman may be carrying a gene for haemophilia and in the heterozygous
condition (XX), she does not exhibit any visible effect of the disease. But she is
capable of transmitting the disease to 50% of her sons. Haemophilia is very rare
in women, because, to have this disease the woman must be monozygous (XX)
with the recessive genes. A haemophilic woman normally dies before adolescence
due to severe bleeding. Among the children of a haemophilic man, all the
daughters are carriers of haemophilia but none of his sons are affected by the
disease (provided the mother of the children is neither haemophilic nor a
heterozygous carrier). This is one of the characteristic features of X-linked

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inheritance that the father gives X-chromosome to his daughters, but the sons
receive no X-chromosome. Hence, there is no scope of transmission of X-linked
traits from father to son, but the grandsons often receive these traits through
daughters. Therefore, this trait also follows a criss-cross pattern of inheritance. If
a haemophilia carrier woman marries a normal man, 50% of her daughters will
be normal; other 50% will be the carriers. Among the sons, 50% will be normal
and other 50% will be haemophiliacs. Usual frequency of haemophilic male birth
is about 1 in 10,000 while haemophilic female birth occurs once in 100,000,000
births.

MUTATIONS

SPONTANEOUS MUTATIONS
Mutations when they arise suddenly in nature are called spontaneous mutations
and they are also called as background mutations whose origin is unknown. They
arise by the action of mutagenic agents present in the environment. These
mutagenic agents include cosmic rays, radioactive compounds, heat and naturally
occurring base analogues such as caffeine.

INDUCED MUTATIONS
Many agents such as radiations and some chemicals called mutagens can be
applied to create induced mutations. The agents which induce artificial mutations
are called mutagens or mutagenic agents. Induced mutations are caused in plants
by mutagenic agents which are of two types: Physical agents: X-rays, UV-rays,
α, β and γ-rays. Chemical agents: Mustard gas, Ethylene amine, Colchicine,
Ethyl-methyl sulphonate (EMS).

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GENE MUTATIONS
Gene or point
mutations

Frame shiift Substitution

Transition

Transversion

Gene mutations are changes in the fine structure of genes. Since genes are DNA
segments, the gene mutations include changes in the number or arrangement of
nucleotides in the genes. Gene mutations occurring due to change in a single
nucleotide are called point mutations.

Types of gene mutations

1. Substitution mutations
(i) Transition: In transition, a purine is replaced by another purine and a
pyrimidine is replaced by another pyrimidine, i.e., A=T is replaced by
G = C or vice versa.
(ii) Transversion: In transversion, a purine is replaced by a pyrimidine or
a pyrimidine by a purine, i.e., C G replaced by G C or A=T is replaced
by T=A.

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 2. Frame shift mutations: These are caused by deletion or addition of
one more nucleotide in a DNA segment. Since genetic code is comma-
less, both addition as well as deletion of nucleotides shift the reading
frame of codons from the site of change onwards. Therefore, these
mutations are called frame shift mutations.

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 TRANSVERSION

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UNIT 2_CHAPTER 5_PRNICIPLES OF INHERITANCE AND
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CHROMOSOMAL MUTATIONS OR CHROMOSOMAL
ABERRATIONS
(structural changes)
➢ Changes in number of genes
• Deletion or deficiency- loss of one or more genes due to deletion of
chromosome segment.
• Duplication- addition of one or more genes due to doubling of
chromosome segment.
➢ Changes in the arrangement of genes
• Inversion- rotation of a block of genes in a chromosome at 180°, so
that, so that the sequence of genes in the inverted segment is
reversed.
• Translocation- exchange of parts between non homologous
chromosomes, so that new linkage groups are formed.

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CHANGE IN THE NUMBER OF CHROMOSOMES
➢ Changes involving entire sets=Euploidy

• Haploidy – Having only one set of chromosomes=n

• Polyploidy - Each set of chromosome is represented more than
twice. triploidy=3n, tetraploidy=4n pentaploidy= 5n.

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 ➢ Changes involving the number of chromosomes in a set = aneuploidy
• monosomic- Loss of 1 chromosome from 1 set- 2n-1
• polysomic - Addition of 1 or more chromosomes to one set. 2n+1 or
2n+1+1
• nullisomic - Loss of both the chromosomes of a pair. 2n-2

HUMAN GENETIC DISORDERS

Broadly, genetic disorders may be grouped into two categories – Mendelian

disorders and Chromosomal disorders.

MENDELIAN DISORDERS

Mendelian disorders are mainly determined by alteration or mutation in the single

gene. These disorders are transmitted to the offspring on the same lines as we
have studied in the principle of inheritance. The pattern of inheritance of such
Mendelian disorders can be traced in a family by the pedigree analysis. Most
common and prevalent Mendelian disorders are Haemophilia, Cystic fibrosis,
Sickle-cell anaemia, Colour blindness and Phenylketonuria. It is important to
mention here that such Mendelian disorders may be dominant or recessive

By pedigree analysis one can easily understand whether the trait in question is
dominant or recessive. Similarly, the trait may also be linked to the sex
chromosome as in case of haemophilia. It is evident that this X-linked recessive
trait shows transmission from carrier female to male progeny. A representative
pedigree is shown on the next slide for dominant and recessive traits.

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(i) Sickle-cell anaemia : This is an autosome linked recessive trait that can be
transmitted from parents to the offspring when both the partners are carrier for
the gene (or heterozygous). The disease is controlled by a single pair of allele,
HbA and HbS. Out of the three possible genotypes only homozygous individuals
for HbS (HbS HbS) show the diseased phenotype. Heterozygous (HbA HbS)
individuals appear apparently unaffected but they are carrier of the disease as
there is 50 per cent probability of transmission of the mutant gene to the progeny,
thus exhibiting sickle-cell trait. The defect is caused by the substitution of
Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain
of the haemoglobin molecule. The substitution of amino acid in the globin protein
results due to the single base substitution at the sixth codon of the beta globin
gene from GAG to GUG. The mutant haemoglobin molecule undergoes
polymerisation under low oxygen tension causing the change in the shape of the
RBC from biconcave disc to elongated sickle like structure.

(ii) Haemophilia :
Cause: Lack of Factor VIII ( Antihaemophilic Globulin) in Haemophilia A and
Haemophilia B due to lack of Plasma Thromboplastin; due to recessive gene on
X chromosome.
Symptom: Delayed Clotting.
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

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clotting of blood is affected. Due to this, in an affected individual a simple cut
will result 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 extremely rare because mother of such a female has
to be at least carrier and the father should be haemophilic (unviable in the later
stage of life). The family pedigree of Queen Victoria shows a number of
haemophilic descendants as she was a carrier of the disease.
(iii) Thalassemia
Cause:
Recessive mutation or large deletion of autosomal gene or genes associated with
the production of Haemoglobin(HBA 1, HBA 2 on chromosome 16 and HBB on
chromosome 11)
Symptom:
Anaemia, HBB homozygote mutant suffers from β Thalassemic major, with
symptoms of severe anaemia, defects of bones, liver and spleen and do not survive
long.

This is also an autosome-linked recessive blood disease transmitted from parents

to the offspring when both the partners are unaffected carrier for the gene (or
heterozygous). The defect could be due to either mutation or deletion which
ultimately results in reduced rate of synthesis of one of the globin chains (á and â
chains) that make up haemoglobin. This causes the formation of abnormal
haemoglobin molecules resulting into anaemia which is characteristic of the
disease. Thalassemia can be classified according to which chain of the
haemoglobin molecule is affected. In á Thalassemia, production of á globin chain
is affected while in â Thalassemia, production of â globin chain is affected. á
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. While â Thalassemia is controlled by a single gene HBB on
chromosome 11 of each parent and occurs due to mutation of one or both the gene.
Thalassemia differs from sickle-cell anaemia in that the former is a quantitative
problem of synthesising too few globin molecules while the latter is a qualitative
problem of synthesising an incorrectly functioning globin.

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 CHROMOSOMAL DISORDERS
The chromosomal disorders on the other hand are caused due to absence or excess
or abnormal arrangement of one or more chromosome. Failure of segregation of
chromatids during cell division cycle results in the gain or loss of a
chromosome(s), called aneuploidy. For example, Down’s syndrome results in the
gain of extra copy of chromosome 21. Similarly, Turner’s syndrome results due
to loss of an X chromosome in human females. Failure of cytokinesis after
telophase stage of cell division results in an increase in a whole set of
chromosomes in an organism. This phenomenon is known as polyploidy. This
condition is often seen in plants. The total number of chromosomes in a normal
human cell is 46 (23 pairs). Out of these 22 pairs are autosomes and one pair of
chromosomes are sex chromosome. Sometimes, though rarely, either an
additional copy of a chromosome may be included in an individual or an
individual may lack one of any one pair of chromosome. These situations are
known as trisomy or monosomy of a chromosome, respectively. Such a situation
leads to very serious consequences in the individual. Down’s syndrome, Turner’s
syndrome, Klinefelter’s syndrome are common examples of chromosomal
disorders.

(i) Down’s Syndrome or Mongolism or Mongolian Idiocy or 21st Trisomy

Cause:
The cause of this genetic disorder is the presence of an additional copy of
the chromosome number 21, Trisomy of chromosome 21(44+1+XX or
44+1+XY) due to non-disjunction of chromosomes of the 21st pair during
ovum maturation.
Symptoms:
This disorder was first described by Langdon Down (1866). Children
affected with this syndrome have mongoloid features, broad moon-shaped
face, broad forehead, short neck, open mouth, projected lower lip and long
protruding tongue, short and flat hands, stubby fingers, many loops on
finger tips, broad palm with a characteristic crease that extends all the way
across the palm, gap between the first and second toes, eyes widely
separated, slanted with epicanthus fold. Physical, psychomotor and mental
development is retarded.

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(ii) Klinefelter’s Syndrome
Cause:
This genetic disorder is also caused due to the presence of an additional
copy of X-chromosome resulting into a karyotype of 47, XXY.
2n=47/44+XXY i.e., 2n+1 called trisomy due to non-disjunction of XX
chromosomes.
Symptoms:
Sterile or feminised males with under developed genitalia, sparse body hair
and some degree of gynecomastia, mental retardation and limited
intelligence

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(iii) Turner’s Syndrome
Cause:
Such a disorder is caused due to the absence of one of the X chromosomes,
i.e., 2n=45/44+X0, 2n-1; called monosomy due to non-disjunction of X-
chromosomes at meiosis.
Symptoms:
Sterile females with poorly developed ovaries in the form of ridges of
connective tissue called streak gonads and underdeveloped breasts and
small uterus, webbed neck, broad chest and puffy fingers, mental
retardation, short stature and have cardiovascular abnormalities, hearing
impairment.

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 ***********************************************************

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