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CHAPTER - 00
PRINCIPLES OF INHERITANCE AND
VARIATION (GENETICS - I)

Genetics is the branch of biology which deals with the secret of inheritance. Inheritance is the
transmission of characters from one generation to another. Heredity and variation are the two aspects
of inheritance.
Heredity is the tendency of offsprings (New progenies formed through sexual reproduction) to
resemble the parent. Variation is the tendency of offsprings to deviate from the parents.
We can see in nature, regarding every offsprings, during the inheritance from parents
there is heredity aspects and variation aspects.
During sexual reproduction, two parents are contributing ‘something’ to the zygote through gamete.
These are representing different characters and are called as inheritance unit. Because of the
contribution by both parents we are expecting heredity. So what is the reason for variation, it is the
main concern in genetics.
Let us know some eminent contributors in the field of genetics.
I) G.T. Mendel : Father of genetics. He provided the first experimental evidence regarding the morphology
of inheritance unit.
2) William Bateson : Father of modern genetics. He coined the terms like; Genetics, allele, homozygous,
heterozygous, F1 + F2 etc.
3) T.H. Morgan: Father of experimental genetics. He coined the term linkage and demonstrated it in
Drosophila.
4) H.J. Muller : Father of mutation genetics. He discovered/ demonstrated induced mutations.
5) Archibald Garrod : Father of human genetics. He is one of the two scientist behind the discovery of
pedigree analysis.
Before approaching the chapter content let us rewind some basic terminologies.
a) Allele and Gene : Modern name of inheritance unit controlling a character is gene (term is coined
by Johanssen). The two alternate forms of one gene given by the two parents into a 2n cell is allele.
Alleles of one gene are always present on same locus of a homologous pair.

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2 alleles of one gene

* *
Centromere

Arm

2n = 2 (one pair)

b) Phenotype and Genotype : The allelic arrangement of a gene is genotype. The external
appearance of an organism in accordance with the genotype is phenotype [two terms are coined by
Johanssen]
For eg: Dominant and recessive are phenotype forms; Homozygous and heterozygous are genotypic
forms.
c) Homozygous and heterozygous: When the 2 alleles of one gene are similar, it is homozygous
and if alleles are dissimilar it is heterozygous and if alleles are is similar it is heterozygous [These
terms are coined by Bateson]
d) Back cross and Test cross: Crossing of F1/ hybrid with any one of the parent is known as back
cross. Crossing of unknown genotype with a recessive parent is list cross.
e) Reciprocal cross : Performing a cross - pollination or hybridisation after changing the sex of the
parents with respect to the first cross is reciprocal cross. It is used for detecting sex - linked inheritance
and cytoplasmic inheritance.
f) Monohybrid and Dihybrid cross : A cross considering only one character at a time or inheritance
of one gene is a monohybrid cross. A cross considering two characters at a time or inheritance of two
gene is a dihybrid cross.
Coming into the chapter, which mainly concerned with Mendel’s observations and to main exceptions;
we can divide the chapter into ten contents.
1) Mendel’s life history
2) Mendel’s procedure comprising his observations and Laws
3) Exceptions
4) Chromosome theory of inheritance
5) Demonstration of linkage
6) Sex determination
7) Mutation
8) Mendelian disorders
9) Chromosomal disorders
10) Pedigree analysis

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1. MENDEL’S LIFE HISTORY

It is better to know, there is pre- Mendelian period; there were different ideas, none of them have
experimental support. It has been identified that there were three ideas hidden in that views
1) Inheritance unit is known by different names like particle.
2) There is blending of inheritance unit in zygote.
3) Offsprings tends to be average between parents.
 Mendel born in 1822, July 22nd in Austria. He was very strong in mathematics. The difference in the
intensity of variation especially in plant world aroused Mendel’s biological curiosity.
 Mendel started hybridisation / breeding expects in 1856 within the garden pea (Pisum sativum) it
has a chromosome number 2n = 14. Major reason for the selection of pea plant are
1) Pea plant is naturally self - pollinated, so we can impose artificial cross- pollination through
emasculation and Bagging.
2) Short generation time [4 -6 months]
3) Pea plant is having several characters with few contrasting forms and are having clear cut difference
[Qualitative]
Accordingly Mendel selected 7 qualitative character.
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]
 From 1856 - 1863, he performed several monohybrid crosses and polyhybrid /Dihybrid crosses; and
he got several findings and it summerised as principles /Laws.
 In 1865 Mendel published his results. It remains unnoticed for several years because of several
reasons, mainly three.
1) Mendel introduced the concept of factor / gene as discrete unit, which did not undergo any blending
is not able to explain the continuous variation seen in nature.
2) Scientific world was busy about Darwin’s idea of evolution.
3) Mendel’s ideas were ahead of his time [Application of mathematical logic for the first time in biology]
4) Lack of communication facilities.
 During the course of time Mendel died because of kidney failure in 1884 January 6
 In 1900 there scientists; Carl Correns [Ger; ] Hugo De Vries [Holland] , Eric Von Tschermack
[Austria] through their independent work re- discovered mendel’s work
2. MENDELS PROCEDURE OR OBSERVATIONS
It is the main part of Mendelism; it will go through six connected subpoints.

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A) Basic plan of Mendel’s experiment

 Irrespective of the type of crosses, Mendel’s procedure comprises the formation of 2 important
generations.

Bear in mind:Mendel selected 14 varieties of plants [7 characters, each with 2 forms]

which are supposed to be homozygous/pure breeding. Procedure starts from self
pollinatig all these plants continuously to make sure that they are pure breeding; then
selecting the two contrasting forms of a character as parents for hybridisation.

Mendel procedure starts from the selection of parents for artificial cross pollination or hybridisation
from a generation which is formed by continuous self pollination. So they (parents) are supposed to be
pure breeding or homozygous. That is, he allowed the natural self-pollination in all the 14 varieties of
plants representing 7 characters. So these generation which contains 14 types of plants, which
are homozygous can be consider as first parental generation.
Step I : Mendel cross pollinated two contrasting forms of same character taken from the first parental
generation. [Sometimes he considered one character, such a cross is monohybrid cross. Sometimes
he considered two characters, such a cross is dihybrid cross]. It resulted in the formation of first hybrid
generation / First filial / F1 generation. They can also be called as second parental generation.
He observed that F1 plant were resembling one of the parent and they are heterozygous. The
parental form appearing in the F1 is called as dominant form and one that is hidden in the F1 is called
as recessive form.
In Mendelian genetics / classical genetics, the naming of the allele of gene is using first letter of
dominant form. [Capital letter indicate dominant small letter indicate recessive]. For eg. In the cross
considering stem height, the two contrasting forms tall and dwarf are cross - pollinated ; it produces
the F1, where all are tall. So tall is dominant.
So the two alleles of gene which control stem height is ‘T’ [dominant] and ‘t’ [Recessive].
Step II : Self pollination of all the F1 dominant plant. That is, F1 seeds are sown, giving proper care,
allows them to flower which naturally turns into fruit. [Here no emasculation and bagging behind fruit
formation]. It resulted in the formation of second filial / F2 generation.
He observed that; in the F2 there is the reappearance of recessive form along with many
dominant form in a basic ratio. He also observed that F2 contains both homozygous and
heterozygous progenies.
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Explanations of the observations made in F1 and F2 of monohybrid and dihybrid crosses are given as
the three laws.
So we can summarise the Mendel’s procedure as follows.

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Formed by continuous self pollination

First parental generation : Homozygous plant : 14 types

One or Two character

Contrasting form
P1 Contrasting form
P2

Cross pollination / hybrididation through

emasculation and bagging

First hybrid / Filial / F1 generation

Cross pollination / hybrididation through

emasculation and bagging

Second Filial / F2 generation

B) Some important points to remember

Before approaching the monohybrid and dihybrid cross one by one let us understand some basic
applied point with respect to classical genetics.

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Different types of phenotypes

in a group of offspring
= 2n
It is applicable only if there is
Similarity in genotype of parents In both cases 'n' stands for no: of heterozygous pairs
in any one parent

Different types of genotypes

in a group of offspring =3n

Example : Aa Bb Cc dd × AaBb CC Dd
3 3
2 2

8 type gamete 8 type gamete

Types of phenotype : 23 = 8
64 off spring

Types of genotype: 33= 27

 Punnet Square : It is a way for representing the types of gametes produced by parents and the
possibility of gametic union.
ie; It is applicable whenever the parents are producing more than one type of gamete, ie; if they are
heterozygous in minimum one gene.
C) Monohybrid cross
Mendel performed 7 monohybrid crosses and he got the same observations in F1 & F2; Later these
observations only become base of first and second law. As the example we will consider the cross
regarding stem height. As we learned earlier; the two contrasting forms of height, Tall and dwarf; are
considered as the parents for the first main step; that is cross pollination. Since the tall and dwarf plant
is taken from first parental generation, they are supposed to be homozygous. So let us have the outline
of monohybrid cross.

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Eg : Stem height

As the heterozygous F1 resemble only one parent, here tall parent. Mendel proposed that in a pair of
dissimilar factors or alleles, one will completely dominant the other. Accordingly former is called as
dominant factor / allele and the later is called as recessive factor / allele. This assumption is the basis
of first law.

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As there is the reappearance of recessive trail, here it is dwarf. Mendel proposed that F1 parent produced
certain gamete with recessive allele only, that demonstrate that there is no blending for dominant allele
(T) and recessive allele in the F1. This assumption is the basis for 2nd law.
Phenotypic ratio  3 : 1 [Tall: Dwarf]
ie  Regarding every monohybrid cross there is the formation of dominant and recessive in 3:1
ratio.
Genotypic ratio = 1: 2: 1 [Homozygous dominant; Heterozygous dominant ; Homozygous recessive]
Mendel thought that this ratio can be explained as the expansion of binomial expression (ax + by) 2.

2

 1 T 1 t
2 2 
 1 T 1 t 1 T  1 t
2 2 2 2
 1 TT : 1 Tt : 1 Tt : 1 tt
4 4 4 4
 1 TT : 1 Tt : 1 tt
4 2 4

1: 2 :1

 Mendel’s assumptions regarding F1 & F2 of Monohybrid Crosses

1) Heterozygous members in the F1 [100%] and F2 [50%] resembled one parent due to the complete
expression only one allele of gene.
2) There is the formation of certain gametes with recessive allele only by F1 parent leading to
appearance of recessive form in the F2 which was hidden in F2; it is strongly illustrating absence of
blending of allele.
3) Something was being stably passed down, unchanged from parent to offspring through the
gametes over successive generations.
 Test cross
It is a type of back cross imagined by Mendel to identify the genotype of dominant phenotype in F1 and
F2.

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It is the crossing of dominant phenotype whose genotype is in doubt with a recessive parent.
When the test cross produces, only one type of offspring, we can assume dominant phenotype was
homozygous. When the test cross produces more than one type of offsprings in equal proportion, we
can assume dominant phenotype was heterozygous.
In both monohybrid cross and dihybrid cross Mendel used test cross to check the genotype of dominant
phenotype. Let us see the difference in the result when dominant phenotype is homozygous or
heterozygous.

Dominant phenotype
[Homozygous / Heterozygous]

Possibiliy I Possibiliy II
Dominant phenotype was homozygous Dominant phenotype was heterozygous

Dominant × Recessive [Homozygous] Dominant × Recessive [Homozygous]

one type of gamete one type of gamete Many types one type of gamete
Minimum 2 types of gametes

one type of offspring

Many types
eg. Dominant Tall minimum 2 types of offsprings in equal proportion
TT × tt
eg. Dominant Tall

T t Tt × tt

T t t
Tt ; Tall

Tt ; Tall tt ; Dwarf

This result shows that when a progeny is heterozygous dominant with respect to one character, test
cross will give 50% each of dominant and recessive. ie, 1 : 1 is the monohybrid test cross ratio.
 In the case of dihybrid cross also when a dominant phenotype is homozygous, test cross produces
only one type of offspring.

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D) Laws on the basis of Monohybrid crosses

I) Law of dominance
 It is on the basis of behavior of heterozygous offsprings in F1 & F2. According to this law
 A character is controlled by one gene [Factor]
 One gene possess two alleles
 When two different alleles of one gene comes together in an individual, without any blending, only
one allele get completely expressed, so the other remains as hidden discrete unit; ie there is complete
dominance to one allele of gene.
 The main aspect of Law of dominance is the complete dominance, which is the reason for the appearance
of only one parental form in the heterozygous condition, ie; dominant form.
 This law is having many exceptions like Incomplete dominance, Multiple allelism; Co-dominance,
pleiotropy etc.
2. Law of segregation /Law of purity of gamete
 This law is explained by Mendel as a reason for the reappearance of Recessive form in F2 and is
based on the fact that there is no blending of alleles.
 The main message of this law is the purity of gamete.
According to this law, during the formation of gamete, there is independent separation (segregation) of
allele towards opposite poles; So that one gamete receives only one allele of gene; primarily due to the
fact there is no blending for alleles in diploid cells.

 Due to the occurrence of only one rare exception [Non disjunction /Failure of segregation], this law is
the universal law of Mendelism.

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E) Dihybrid Cross
 A cross considering 2 characters at a time. He performed several dihybrid crosses, and getting the
same observations through F1 & F2.
 Bear in mind he performed dihybrid crosses only after completing monohybrid cross of respective
characters.
 Of the several dihybrid crosses, the first cross performed by Mendel is the cross considering seed
shape and seed colour. Through the monohybrid cross Mendel already identified that round is the
dominant form and wrinkled is the recessive form of seed shape. Yellow is the dominant form and
green is the recessive form of seed colour.
 Mendel selected a plant carrying dominant forms of respective characters (Round Yellow) and another
plant carrying recessive forms of respective characters (wrinkled green). On the assumption that they
are homozygous their cross-pollination mark the beginning of cross.

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 Dihybrid phenotypic ratio : 9 : 3: 3: 1

[Supposed to be 3 :1 × 3: 1]
 Dihybrid genotypic ratio : 1: 2: 1: 2:4:2:1:2:1
[Supposed to be 1:2:1×1:2:1]
Where ‘1’ stands for pure breeding forms or homozygous for 2 genes.
: Out of 16; four are pure forms but they are of 4 different types.
‘4’ stands for : Impure forms or heterozygous for 2 genes.
: Out of 16; four are impure form but all are one type [RrYy]
‘2’ stands for Monohybrid forms
Out of 16: eight are monohybrid forms but they are of four different types.
Mendel’s assumptions regarding F1 & F2
 All the members of F1 who are heterozygous resembled one parent only, obeying the Law of dominance.
 He observed that there is individual segregation of dominant and recessive forms of respective character
in 3:1 ratio even now, illustrating an independent behaviour of gene.

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eg:

 He observed the presence of recombinant offsprings [Round green & wrinkled yellow] along with parental
type offsprings [Round yellow & wrinkled green]; It is due to the formation of non- parental combination
in gamete due to the independent assortment of genes.
F) Law of independent assortment
This law is based on the observation in the dihybrid F2 is that, phenotypic ratio [9 : 3 : 3 : 1] and
genotypic ratio [1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1] can be observed as the multiplication of the respective
monohybrid ratios.
 According to this law when two pairs of traits (two characters) are combined in a hybrid, segregation
of one pair of character independent of the other pair of characters.
 It means that segregation of two alleles of one gene is independent of the segregation of two alleles of
other gene.
 Its impact is that, heterozygous genotype or hybrid can form maximum possible type of gamete in
equal proportion which comprises parental gametes and non-parental gamete.
 For eg. The F1 dihybrid RrYy can form four types of gamete; [Applying the law of segregation, from an
allelic pair / gene, only one allele can enter into a gamete] ; RY, Ry, rY, ry in equal proportion, that is
each gamete is with 25% probability only because of the independent segregation of Rr pair and Yy
pair.
 This law is having only one exception that is linkage, it is better to have an understanding of the deviation
of the law when linkage is present.
 For that we have to think; eventhough Mendel don’t know the place where gene or factor is present;
now we accepted that they are present on chromosome. So if the cell with genotype RrYy is concerned
there are two possibilities with respect to their position chromosome.

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Possibility 1 Possibility 2
Absence of Linkage Presence of Linkage

R r R r

Y y

Y y

Here we can expect independent Here we can see segregaton of Rr pair is

segregation of two pairs of alleles
as they are present on independent
pairs of chromosome
r
dependent on segregation of Yy pair; because
eventhough many pairs of chromosome were
present two pairs of alleles were present on
same pair of chromosome

3. EXCEPTIONS TO MENDELISM / POST MENDELISM

Exceptions can be consider either focussing the laws of Mendel or focussing the number of genes
behind the character.
Most appropriate is focussing the laws accordingly, all the exceptions in our syllabus are deviation
from first law.
A. Incomplete / Partial/ Intermediate inheritance
 Reported by Cart Correns in plants like Mirabilis [4 O’ clock plant] and Antirrhinum [Snapdragon /Dog
flower plant].
 It is the phenomena where heterozygous genotype resemble none of the parents, they become
intermediate between parents.
 In Antirhinum, regarding flower colour red is dominant form and white is recessive. As Mendel did, they
cross pollinated pure breeding red and pure breeding white ; resultant generation named as F1 never
resembles any of the parent, instead there is the appearance of intermediate pink.
 Genotypically what is incomplete dominance, when two different alleles of one gene comes together,
without any blending, dominant allele failed to show the complete dominance over the recessive allele.

 Earlier it was thought that intermediate / average is because of the blending of

alleles. Absence of blending of allele in the F1 or heterozygous condition is evident
from the fact, there is reappearance of early pure parental forms in the F2 .

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 F1 of incomplete dominance is phenotypically similar to pre-Mendelism due to the appearance of

intermediate form, but genotypically similar to Mendelism as there absence of blending of allele.
 The monohybrid cross with respect to the flower colour of Antirrhinum is as follows :

Homozygous Homozygous
Red White
[RR] [rr]

Cross - pollination

F1 Pink [Intermediate]
Rr

Self - pollination

R r
F2
RR Rr
R Red Pink

Rr rr
r Pink White

 It is clear that, phenotypic ratio is always equal to the genotypic ratio that is both are 1 : 2 : 1
 What is the concept of dominance : A gene code for an enzyme which will mediate a reaction
resulting in the formation of a product. Presence of that product is the dominance and absence of the
same product is recessiveness. We must know that if a gene is having basically 2 alleles, one allele is
the normal or unmodified allele. It produces the normal enzyme leading to the formation of the normal
product. But the second alleles is said to be modified allele and can have any of three possibilities.
(i) Producing the normal enzyme like that of unmodified allele.
(ii) Produces a non-functional enzyme
(ii) No enzyme production
In the case of incomplete dominance, a modified allele with any of the last 2 possibility present along
with a unmodified allele. So the full expression of particular gene is not expressed, as the phenotypic
expression completely dependent on that unmodified allele resulting in the formation of intermediate
phenotype.

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B. Multiple allelism
 When the character is controlled by one gene with 3 - many alleles through the different members of a
population is multiple allelism.
 So multiple allelism is a population character.
 If a gene contains ‘n’ number of alleles possible genotypes in population can determined / calculated
using the formula

n  n  1
2
 For eg: Gene controlling the blood group ‘I’ with three alleles; their the possible genotypes

3  3  1 12
   6 genotypes
2 2

B ear in m ind : W hen a m ultiple allelic gene is h avin g m ore than one dom in an t allele th ey can
easily exh ib it co- dom inan ce.

C. Co- dominance
 When two different allele of one gene comes together, without any blending, both alleles are having
expressions, it remains in 1:1 ratio providing a chance to resemble both parent is co- dominance.
 Co - dominance is mostly shown by multiple allelic gene.
 ABO Blood Group in human being is the classical example for multiple allelism and co-dominance.
 It is controlled by the gene I with three alleles, two of them are dominant.

 I gene obeys both Complete dominance and Co-dominance, such a way that ‘IA’ and IB are
completely dominant over '  ' ; but IA and IB together co-dominant among themselves.
 I gene can have maximum 6 genotypes in population and because of dominant - recessive relationship
phenotypes reduced to four

I A IA ; I A   A group 

 I B IB ; I Bi  Bgroup  Complete dominance
   O group 

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 IA IB  AB group: Co  dominance

Bear in mind ; among the four blood groups, AB group only obeys co- dominance.

D. Polygenic inheritance [Quantitative inheritance]

 Character is controlled by three or more than three genes, where every genes are biallelic is polygenic
inheritance
 Speciality of this pattern is the cumulative or additive effect of dominant alleles. It is the ability of
dominant allele to change the phenotype in accordance with the change in number.
 As the number of genes behind the character increases, possible genotypes which differ in the number
of dominant allele also increases, producing different phenotypes with little difference; So the character
will have many contrasting forms with / without clear differences; that is there is quantitative inheritance.
For eg : Skin colour of human beings
 It is controlled by three genes, A, B, C .
 If all the three genes are homozygous dominant; they will have six alleles dominant. Due to the
cumulative effect maximum melanin deposition, so they will be dark skinned.
 If all the three genes are recessive they will have six alleles recessive, they will have lightest skin colour
 If all the three genes are heterozygous dominant, they will have three alleles dominant and three alleles
recessive, they have an intermediate colour.
E. Pleiotropy
 Phenomena by which one gene exhibit multiple phenotypic expression is pleiotropy. ie: there are
pleiotropic genes
 The underlying mechanism of pleiotropy in most cases is the effect of a gene on metabolic pathways
which contribute towards different phenotypes.
 As we know every gene control a phenotype by the control of metabolic pathway through the help of an
enzyme coded by that gene.
 If a gene is going to be pleiotropic, it can be in any one of the two ways.
(i) A gene which normally produces an enzyme is mutated, deviating the normal pathway, the substrate
of the pathway can be converted into other products leading to the phenotypic expression in various
ways.
 Example for this is the disease phenylketonurea. There is a gene present on the 12th pair of
autosome code for an enzyme involved in the conversion of phenyl alanine into tyrosine. Sometimes
these gene mutate, blocking the normal pathway resulting in the formation of phenylpyruvic acid, it is
an unwanted compound and will accumulate in brain cells. Phenotypic manifestation in different ways
like mental retardation, reduction in hair and change of skin pigmentation.
(ii) A gene code for an enzyme catalysing a lengthy metabolic pathway resulting in the formation of final
product giving a phenotype, sometimes intermediates of the reaction can divert into other pathways
resulting in the formation of another product.
 A speciality of pleiotropism is that, pleiotropic gene can show more than one type of dominance with
respect to different characters.

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Control seed shape

[Complete dominance]
BB
Round
BB
Example : In Pea plant [B] bb : wrinkled

Control starch synthesis

[Incomplete dominance]
BB : Large starch grain
Bb : Intermediate grains
bb : Smaller starch grain

4. CHROMOSOME THEORY OF INHERITANCE

 In the beginning of 20th century there is development of cytology along with genetics due to the discovery
of meiosis.
 In 1902, Sutton & Boveri, studied the movement of chromosome in meiosis and identified the following
three important similarities between Mendelian factor/ alleles of genes and chromosomes.
1) Both alleles of genes and chromosomes are in paired condition in 2n cell.
2) Both alleles of genes and paired chromosome [Homologous chromosome] are separated during
anaphase - I; So that only one from a pair enter into gamete.
3) Separation of one pair is always independent of the separation of another pair in the case of
chromosome; but separation of one pair can be dependent on another pair in the case of pairs of
alleles, if they are linked on a pair of chromosome.

So segregation/ separation of one pair is always independent of the segregation of another

pair, true in the case of pairs of chromosome, not in the case of pairs of alleles.

 Page 82 Fig,5.9  NCERT  : exp lains the independent segregation of 2 pairs of chrom 

On the basis of similarities between alleles of genes and chromosome Sutton & Boveri proposed that
alleles of genes are located on homologus chromosome, so it is the chromosome that are segregated
during meiosis [chromosome theory of inheritance].
On the assumption that pairs of alleles (Genes) are more than that of pair of chromosomes,
Chromosome theory predicted the association of many pairs of alleles on every pair of chromosome
ie; possibility linkage.
5. DEMONSTRATION OF LINKAGE [MORGAN’S WORK ON DROSOPHILA]
The effort of experimental verification for chromosome theory by T.H. Morgan; it leads to the exposure
of details of linkage and the basis for the variation in sexual reproduction.

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Morgan coined the term Linkage to represent the physical association of many genes on a
homologus chromosome.
 Morgan selected Drosophila (Fruit fly; 2n = 8; [6 Autosomes + xx | xy) because of following major
reasons.

 Sexual dimorphism distinct: are smaller than .

 They can be grown on a simple synthetic medium.

 Short life span [2 -3 weeks]
 There are many hereditary variations that can be seen with low power microscope.
 Morgan going to perform two dihybrid crosses by combining any 2 character at a time.

Selected characters

1. Body colour Brown + Yellow

Cross - A
2. Eye colour Red & White
Cross - B
3. Nature of wing
Large & miniature

 Through the dihybrid crosses in Drosophila Morgan observed that the two genes did not segregate
independently and the F2 ratio deviated from the Mendelian ratio 9 : 3 : 3 : 1. He identified that, the
proportion of parental gene combination is more than that of non-parental / recombinant type. Morgan
proposed that this is due to the physical association of that two genes (2 pairs of alleles) on the same
pair of chromosomes ; that is two genes are linked on that pair of chromosome. He used the term
recombination to describe the formation of non-parental or recombinant type and he proposed that
crossing over between that gene (if possible, it is according to the distance between genes) is the
reason for the formation of non-parental combinations in gamete.
 Morgan’s crosses are on the basis of following fundamental observations/ assumptions.
1) Genes of the selected characters are present on X- chromosome so there is sex - linked inheritance
in Drosophila.
 Inheritance of vegetative characters through the genes present on allosome /sex- chromosome is
sex- linked inheritance; eventhough it is discovered in Drosophila, it is identified in human being also.

Eg. Haemophilia, colour blindness , Hypertrichosis


 
x  linked[Disorders] y  linked

 When a character is sex - linked, there is the need of chromosome background for representing

genotype, since allosomal pairs are different + .

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In NCERT Page : 84; observe the genotypes supported by chromosome.

y+ w+ y w
yt w+ x
x x
x x y
y+ w+ y w

Homozygous Heterozygous Hemizygous

2) Representation of alleles of genes are always using first letter of recessive form of character, such
way that; Letter with ‘+’ sign indicate dominant allele; and letter (without any sign indicate recessive
allele.
Eg: Body colour : Y+ [dominant ]& y (Recessive)
[Recessive - yellow]
Eye colour : w+ [dominant ] & w (Recessive)
[Recessive - white ]
Nature of wings m+ [dominant ] & m (Recessive)
Recessive - miniature]
 In this context, better to know three basic terms
 Wild type : Any dominant phenotype
 Parental type : Any genotype, where every chromosome posses either dominant or recessive allele.
 Recombinant type : Any genotype, where at least one chromosome carries both dominant and recessive
allele.
3) On the assumption that 2 pairs of alleles (2 genes) are linked on a pair of chromosome, heterozygous
genotype can produce two types of gametes; parental type and recombinant type; their proportion
varies according to the strength of linkage.
 The phenomena by which/where, heterozygous genotype/parent produces more parental type gamete
[Gamete formed without a crossing over between the genes under consideration, as the distance
between genes decreases their number will increase] and few recombinant type gamete [Gamete
formed after a crossing over between the genes under consideration, [as the distance between gene
increases, their number also increases] indicate the strength of linkage.
 So it is very clear that

1
 Distance between genes strength of linkage.

 No. of parental gamete  strength of linkage.
1
 No. of recombinant gamete strength of linkage

 Distance between genes  No. of recombinant gamete
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 Morgan’s Observations
Through the analysis of the offsprings formed in the F2 of cross A [Combining body colour and eye
colour] and cross B [Combining eye colour and nature of wings] he came to the following conclusions.
1) Distance between gene is the illustration of strength of linkage. If the two genes are closely placed,
strength of linkage is said to be high resulting in the formation of more parental types and few
recombinant. For eg. In the cross A : parental types were 98.7% and recombinant were 1.3%. So
Morgan is classifying the linkage into two types.
A) Complete linkage
When the two genes are closely placed such a way that distance between them is zero; it ultimately
produces parental types only, no recombinants.
B) Incomplete linkage
When the two genes linked on the chromosome are away from each other giving a chance for the
crossing over; it ultimately produces more parental types and few recombinants.
Morgan assume that both crosses are illustrating incomplete linkage as there is the formation of
recombinants, but strength of linkage is very high in cross a [ie, the genes y+ and w+/ y and w]; Since
there are high proportion of parental type.
2) Percentage of recombinants [Gametes /Offsprings] is directly proportional to the distance between
genes on the chromosome. It is the basis for constructing chromosomal map.
First chromosomal map is constructed by Alfred stuartvent in 1911.
Unit of distance between genes = CentiMorgan, cM; ie; 1 cM = 1% of recombinant.
6. SEX DETERMINATION
There are different ways of sex determination in different organism, which mainly differ in
 Time of determination of sex with respect to the syngamy.
 No. of contrasting forms in the population.
 No. of pairs of chromosome involved
 Whether there is influence of environmental factor.
 Here we are discussing the chromosome theory of sex determination, which is applicable to majority
of animals like Humans. It is proposed by Henking in 19th century.
 Henking observed the role of only one pair of chromosomes in sex determination. He identified the
dissimilar chromosomal pair in some insect during the study of spermatogenesis; he named the longer
one as x- body [Later identified it as x- chromosome].
 According to the chromosome theory.
 Sex is determined during syngamy.
 Only two contrasting forms in population.
 Of the many pairs of chromosomes, only one pair namely allosome /heterosome/ sex chromosomes,
through the expression of genes present on them decide the sex.
 Study of different organisms which are obeying chromosome theory, reveals that there are differences
among them with respect to 2 important criteria.

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1) Morphology of allosome in male and female.

2) Genetical importance of parent [Sex of heterogametic parent ]
On the basis of these two criteria there are three major types.

+
1. XX - XY type
[Humans : Drosophila] homogametic heterogametic
+

XX XY one type of egg 2 types of sperms

1/2 A+x
1/2 A+X 1/2 AXY

2. XX - XO type
[Grass hopper : Cockroaches] homogametic heterogametic
+

XX XO one type of egg 2 types of sperms

1/2 A+x
1/2 A+X 1/2 A

3. ZW - ZZ type
[Birds : Reptiles] heterogametic homogametic
+

ZW ZZ 2 types of egg one type of sperm

1/2 A+Z
1/2 A+W 1/2 A+Z

 In the first two types [XX-XY and XX-XO types] since males are heterogametic, the type of sperm
fertilizes the egg, decide the sex of offspring. In ZW-ZZ type since female is heterogametic, the type of
egg fertilizes the sperm decide the sex of offspring. In XX-XO type, males always have one chromosome
less than female.
 In human, it is clear that sex is decided by the type of sperm which fertilizes the egg.

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 Sex determination in honey bee [Haplo - Diplo system]

The sex in honey bee is based on the number of sets of chromosome an individual receives.
 Females are formed by the sexual union of egg [16 chromosome] and sperm [16 chromosome]. So
she is diploid with 32 chromosome.
 Male are formed from egg cell through parthenogenesis. So male is haploid with 16 chromosome.

Female
[2n : 36] Male
[n : 16]

Meiosis
Mitosis

Egg
[n : 16] Sperm
[n : 16]

Sexual
union

n : 16
male 2n : 32
Female

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7. MUTATION
 The term mutation is coined by Hugo de Vries to represent sudden heritable changes. Generally
saying it is one of the reason for variation in DNA / genes.
 In general mutation can be grouped into two; Spontaneous and induced mutation.
i) Spontaneous mutation : Mutation that is naturally occurring, comparatively in low frequency with
more harmful effect.
ii) Induced mutation : Mutation that is in response to external stimuli (Mutagents) that can be in high
frequency is called induced mutation. Induced mutations generally have useful aspects, so they are
having practical applications in some applied branches like plant breeding.
 According to the part of cell affected by mutation, it can be classified into three.
1) Gene mutation : Mutation due to the change in structure of nucleotide of DNA through the nitrogen
base. Whether there is change in the length of DNA, and what about the impact in m- RNA, it is either
substitution or Frame - shift.

Gene mutation

Substitution Frame- shift

[Point Mutation] Due to the deletion or addition of few
nucleotides resulting in change in the
Due to the replacement of length of DNA. It changes the sequence
nitrogen bases in few nucleotide, of codons.
so no change in the length of DNA.
It usually changes the complementary
codon only.

It is of 2 types

Transition Transversion
Replacement by Replacement by
the same class of different class
bases. of bases
eg: Purine by eg: Puine by a
another purine pyrimidine

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Bear in Mind : The most common gene mutation is point mutations. When it change the
complementary codon of m- RNA; according to the criteria; whether it changes the structure
of protein, mutations in m- RNA can be : Missense mutation [Protein structure will change].
Silent mutation [Protein structure remains unchanged]. Non- sense mutation [Protein
structure will change].

2) Chromosomal abberations
 Mutation due to the change in structure of chromosome; common in cancer cells.
 Aberrations not a major reason for genetic disorders.
 Abberations are mainly four types.
a) Deletion: Removal of a segment of chromosome with few alleles.
b) Duplication : Addition of deleted segment to the second component of same homologus pair.

3) Translocation : addition of deleted segment to another homologus pair of chromosome, so it is a

interhomologue change of segments. Translocation many be reciprocal or non- reciprocal.

Non - reciprocal translo:

4) Inversion : Addition of deleted segment to same chromosome after 180o turning, making a change in
the order arrangement of alleles. Inversion many be pericentric [Involvement of centromere] or
paracentric [No involvement of centromere]
3. GENOMATIC MUTATION [Numerical chrom: Mutation]
Mutation due to the variation in representation of chromosome, so that chromosome number will change
in a diploid cell.
 Variation in representation can occur in all pairs of chromosome or in few pairs of chromosome;
accordingly these mutation can have two possibilities.
 Euploidy : Variation in representation takes place in all pairs, so that ‘n’ number will change; it may be
decrease or increase.

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Euploidy

2n = AABBCC

2n - n 2n + n, n, n etc.
(Monoploidy) (Polyploidy)
eg: ABC eg: AAABBBCCC [2n+ n =3n]
AAAA BBBBCCCC [2n+ 2n= 4n] etc

 Aneuploidy : Variation in representation takes place in few pairs; so ‘n’ number remains the same, but
number will change . According to the intensity of variation happening in few pairs, it can have four
major possibilities.

So, aneuplorty will have n-1 chance in every diploid cell.

 Trisomy [2n+1]  AABBCCC; Simple trisomy

 AABBBCCC; Double trisomy
 Tetrasomy [2n+2]  AABBBBCC: Simple tetrasomy
 AABBBBCCCC; Double tetrasomy
 Monosomy (2n -1)  AABBC: Simple monosomy
 AABC : Double monosomy
 Nullisomy(2n -2)  AABB... Simple nullisomy
 AA..... Double nullisomy

Bear in Mind the numerical after the 2n indicate number of chromosome added / deleted
in few pairs. For eg. In 2n +1; '+1' means that one extracopy of chromosome is added to few pairs.

Genetic disorders are inheritable problems arises because of certain types of mutation.
8. MENDELIAN DISORDERS
 Genetic disorders because of gene mutation and are represented by some inheritable diseases are
mendelian disorders.
 Why they are named as ‘Mendelian ?
It is because, problematic genes are biallelic and they obeys complete dominance ; that is, genes are
obeying Mendelian inheritance.
 Among the various mendelian disorders, there are five diseases in our syllabus.
 Haemophilia, colourblindness, Sickle cell anaemia Thalassemia, Phenylketonuria.

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 There are three important similarities shared by all the above examples.
1) All diseases are due to the mutation of recessive allele of gene on Autosome or X- chromosome
2) Since recessive alleles are problematic, expression of diseases only in homozygous condition of
respective genes.
3) Heterozygous genotypes [Normal due to the presence of dominant allele], but they carries the
problematic recessive allele, so they known as carriers.
So carrier phenotypes is present in all these diseases but regarding the carrier sex there is difference,
such a way that ;

X-linked disorders
Haemophilia and
Colour blindness * So carrier only female ; as she only
possess 2'X' chromosome to carry
different allele of same gene

Mendelian disorders

Sickle cell anaemia Autosome linked disorders

&
Thalassemia * So carrier is male or female;
& as the autosome pairs are same in
Phenylketonurea
&

 In the case of X-linked disorders because of recessive allele, eventhough carrier is female only,
frequency of disease more in male; it occurs in about 8% males and only about 0.4% in females. It
is because males have only one X-chromosome, so when the male receive the X-chromosome from
mother; if the mother is a carrier son is having 50% chance of getting the disease.
 Let us take the diseases one by one to have the reasons of occurrence.
1) Haemophilia / Bleeder’s disease/ Royal disease
 It is due to the absence of some proteins which are necessary for clotting of blood ; so failure of clotting
is the symptom
 There are three types of haemophilia, 2 are common.

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 Transmission of this disease from an unaffected carrier female to some of the male progeny has been
common. Possibility of female becoming haemophilic extremely rare, because it is possible only if her
mother is at least carrier and father is haemophilic [haemophilic male enviable in the later stage]
 Problematic gene present on X- chromosome with two alleles ‘H’ and ‘h’ So the possible genotypes are

H H
Normal H h
H H Carrier [only female X X]

h h h
h h : Haemophilic [X X X Y]

 So it is a X- linked recessive disease.

2) Colourblindness /Daltonism
 It is also a x - linked recessive disease, due to the mutation of recessive allele of respective gene.
 If result in the failure of separation of two colours. Red and Green ; due to the defect in either red or
green cone of eye.
 It is due to the absence of protein which is necessary for activating the perception site of brain which is
normally giving the message of separation.
 Problematic gene is present on X- chromosome with two alleles ‘C’ and ‘c’; so the possible genotype
are

C C
Normal C c
C c Carrier [only female X X]
c c c
c c : Colourblind [X X X Y]

Bear in mind : Since haemophilia and colourblindness are X- linked recessive; frequency of
disease very high in male [becasue male has only one x chromosome, so if it carries just one
problematic allele, there is expression] very low in Females.

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3. Sickle- cell anaemia

 It is an autosome linked recessive disease . So the carrier as well as anaemic phenotypes have
equal chance in .

 It is primarily due to the alteration in the structure of β - chain of haemoglobin; which leads to the
polymerisation of chain under low oxygen tension causing the change in RBC shape; Ultimately low
O2 carrying capacity of blood.
 Genetic reason is the mutation of gene [Present on 11th autosome]; particularly transversion
category of point mutation. It leads to the change in a codon of m- RNA [Missense mutation], that
ultimately changes the 6th aminoacid in the β - chain [Glutamic acid to Valine].

 Problematic gene is present on 11th chromosome [Hb gene] with two alleles [HbA and Hbs], the possible
genotypes are,

HbA

Hb A
HbA

HbS
Normal [
Carrier
& ++
& ]
HbS HbS : Anaemic [ & + ]

3. Thalassemia
 It is an autosome linked recessive disease, so the carrier as well thalassemic phenotypes have

equal chance in .

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 It is primarily due to the reduced rate of synthesis of one of the two chains of haemoglobin
ultimately lowering the O2 carrying capacity of blood.

 It may be  Thalaseemia or  - Thalaseemia

 Thalaseemia due to inadequate production  chain.
 - Thalaseemia due to inadequate production of  - chain. It is the most common form.
 Genetic reason is the gram shift mutation of the respective genes.  thalassemia is due to the
mutation of two closely linked genes on 16th chromosome [HBA1 and HBA2].

1th chromosome [HBB]

 - thalassemia is due to the mutation of gene present on 11
Bear in mind : Sickle cell anaemia & Thalasseemia are similar in that both are affecting
haemoglobin synthesis; but there are two classical differences.

5. Phenyl Ketonurea
 It is also an autosome linked recessive disorder; so the carrier as well as diseased person phenotype

have equal chance in .

 It is an example for inborn error in amino acid metabolism. It is due to the defect in aminoacid metabolism.
 It is primarily due to the accumulation of phenyl pyruvic acid in brain cells causing mental retardation.
 Usually a gene present on 12th pair code for the enzyme, phenyl alanine hydroxylase; this enzyme is
needed for the conversion of phenyl alanine into tyrosine.
 Genetical reason is the mutation of gene [present on 12th chromosome], which code for enzyme
phenyl alanine hydroxylase. In the absence of enzyme, the metabolic pathway converting phenyl
alanine into tyrosine is blocked. So that phenyl alanine now converted into phenyl pyruvic acid.

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9. CHROMOSOMAL DISORDERS
 Genetic disorders due to the aneuploidy category of mutation; ie, they are human beings with variation
in representation of certain pair of chromosome; that is, it is due to absence or excess or abnormal
arrangement of one or more chromosome.
 Their chromosome number deviate from 46.

Bear in mind : Root cause of aneuploidy is the failure of segregation or Non- disjunction of
certain pair/ pairs of chromosome of parent which occurs during anaphase - 1, resulting in
the formation of abnormal gametes. Failure of cytokinesis after telophase result in polyploid
condition which is a type of euploidy. Polyploidy common in plants and can be artificially induced.

 Addition or deletion of chromosome due to the variation in representation can happens in autosome
and Allosome. The common examples of chromosomal disorders are
a) Down syndrome /Mongolism [Autosomal syndrome]
 Due to the trisomy of 21st pair, so the chromosome complement of affected individual is 45 A + XX/XY
[Total = 47]
 It was first described by Langdon Down
 Symptoms : short stature, small round head, furrowed tongue , partially open mouth, Broad palm, slow
psychomotor and mental development.
b) Klinefelter’s syndrome [Allosomal syndrome]
 Due to the trisomy of allosome through the x- chromosome in male, so the chromosome
complement of affected male will be 44A + XXY [Total = 47]
 It may arises due to the union of a normal egg [22A + x ] with abnormal sperm [22A+ xy] or union of
a normal sperm [22A+ y] with an abnormal egg [22A + xx]
 Morphologically such male will exhibit many secondary female characters [Gynaecomastia]
 Genetically they are sterile
c) Turner’s syndrome [Allosomal syndrome]
 Due to the monosomy of x- chromosome in female. So the chromosome complement of affected
female will be 44 A + XO [Total = 45]
 Prime reason may be the formation of abnormal egg /sperm
 Morphologically such females are devoid of many secondary female sexual characters, so lack of
exact female appearance.
 Genetically they are sterile
10. Pedigree Analysis
 Genetic analysis regarding the flow of character in a family by observing two or more generations
for studying the transmission of a particular trait and finding the possibility of absence or presence of
that trait in homozygous or heterozygous state in an individual.
 A record of inheritance of certain genetic traits for 2 or more generations presented in the form of a
diagram or family tree is Pedigree.

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 Pedigree analysis employs two tools

1) Principle of probability and chances of difference in realised ratio due to smallness of the progeny
2) Elimination of alternatives
 Pedigree analysis is needed in study of human genetics because of following reason.
i) Control crosses cannot be performed in human being because of ethical issue.
ii) Long generation time
iii) Single mating produces few progenies
 The major symbols used in pedigree chart are

We are supposed to identify, whether a particular trait depicted in the pedigree chart is any of the 5
possibilities.
i) Autosomal dominant ii) X-linked dominant
iii) Autosomal recessive iv) X-linked recessive
v) Y-linked
i) Autosomal dominant
 Pedigree is vertical, trait in almost all generations with more than 50% frequency in at least one generation.
 Can transfer from parents to either sex
 Female to female and male to male transfer is possible

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ii) X-linked dominant

 Pedigree is vertical, trait in almost all generations with more than 50% frequency in at least one generation
 If male is affected, all daughters affected none of sons
 That is, if character is X-linked dominant. No male to male transfer
 If female is affected, almost half of her sons affected
iii) Autosomal recessive
 Pedigree is not vertical
 Can transfer from parents to either sex
 Low frequency [usually not in all generations] equal frequency in male and female
iv) X-linked recessive
 Pedigree is not vertical
 If female is affected, all sons affected none of the daughters
 That is, if the character is X-linked recessive, no female to female transfer
 Low frequency [usually not in all generations] ; more frequency in males than in females.
v) Y-linked
 Strictly holandric inheritance
 Only male is affected
 Male to male transfer compulsory
eg:

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It is x - linked dominant
 Because of the limitations for the study of mendelian applications in humans beings, this technique is
extensively used in human genetics, especially to check dominance / recessiveness of contrasting
forms of character.

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