BIOLOGY

Principles OF Inheritence AND VARIATION

Genetics
- It deals with the inheritance, as well as the Variation of characters from parents to
offspring.
- It is the study of genes and chromosomes
Inheritance
- Inheritance is the process by which characters are passed on from parent to progeny.
it is the basis of heredity
- le: Heredity is the tendency of offspring to resemble their parents
Variation
- It is the tendency of offspring to differ from their parents
- The main reason for variations are
- Crossing over
> Mutation

GENETIC TERMS
- Allele:
- They are alternative form of a gene / Genes which code for a pair of contrasting
traits are known as alleles. Eg : T, t, R, r, Y, y
Phenotype
- The physical appearance of an organism is called Phenotype
- The visible/oservale characterstics of an organism is called phenotype

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Eg: Tall plant, blue eye, round seed

True breeding line

- A true breeding line is one that, having undergone continuous self-pollination, shows
the stable trait inheritance and expression for several generation.
Genotype
The complete genetic constitution of an organism is called Genotype. Eg : T t, T T, RR, Rr, Y
Homozygous (True breeding/Pure line)
An organism with 2 identical allele of a gene Eg:TT, RR,YY, Y, rr, tt

Heterozygous
An organism with 2 different allele of a gene Eg:Tt,Rr,Yy
Character and Trait
- A character is a heritable feature that varies among individuals.
Eg: Flower color,Plant Height,seed shape, Eye colour.
- A trait is a variant for character,
Eg: white or purple colors for flowers, Dwarf plant, Round seed, Blue eye.

GREGOR IOHANN MENDEL

- He was an Austrian monk.
- He is known as father of genetics.
- He conducted hybridisation experiment on garden pea plant (Pisum sativum ) for 7
years (1856-1863)
- Based on his experiment, he proposed ’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
- Mendel selected 14 true-breeding pea plant varieties, as pairs which were similar ex-

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cept for one character with contrasting traits.
- The garden pea plant contains number of characters. Out of these, he selected and
studied only 7 characters. Each of these 7 characters has 2 verities. The 7 characters
are given below.

Reason for selecting garden pea plant

1. It has short life cycle so it gives quick results.
2. Plants shows clear contrasting character
3. Being a herb, it is Easy to cultivate
4. It has bisexual flower
5. It is generally self pollinated and so self fertilised. However, it can e Cross pollination
is easy if self pollination is prevented.

Monohybrid cross- Inheritance of one gene

• It is the cross involving two forms of a single character,

• It is the simplest cross performed by Mendel

• Mendel crossed tall plants and dwarf pea plant to study the inheritance of one
gene.

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 • He collected seed produced as a result of above cross and grew them to generate
F1 (Filial 1 Progeny ).

• Mendel observed that all the F1 progenies were tall (Like one of its parent and 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.

• He then self pollinated the F1 progeny (Tall plants ) to generate F2. He observed
that 75% of the F2 progenies were tall and 25% were dwarf (le: 3:1) Ie: characters
that was not seen in the F1 generation expressed in the F2 (dwarf)

• He also found that, 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 in between height No blending of characters in offsprings.

• Based on this observation Mendel proposed that something being was being stably
passed down unchanged from parents to offspring through gametes over succes-
sive generation. Mendel called it as factors. Now we called 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 is a chemically a
segment of DNA (RNA in some virus )

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 PUNNET SOUARE
• It was developed by British geneticist Reginald C Punnet

• It is the graphical representation to calculate the probability of all possible genotype

of an offspring in a genetic cross.

BACK CROSS & TEST CROSS Back cross

* It is the cross of F1 progeny with one of its parent

Test Cross
- It is the crossing of F1 progeny with its recessive parent.

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- It is used to find unknown genotype of an individual.

Mendel’s Laws on Inheritance

(Principles of inheritance)
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:
1-The First Law or Law of Dominance
2- Second Law or Law of Segregation
1.Law Of Dominance (1st law)
The main points are ...

1. The characters are controlled by discrete units called factors.

2. Factors occur in pair.

3. In a dissimilar pairs of factors (Heterozygous) ,one member of pairs dominates over

the other. (The dominated one is called Dominant, and other character is called

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 Recessive)

D This law is used to explain the expression of only one of the parental character in
the F1 of monohybrid cross. D This law explains the proportion of 3:1 obtained at the F2

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

• 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 .

• This law states that, ”During gamete formation 2 factors for a character present
in an individual will separate from each other and enter into each gamete”

• Thus, 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. Both 1 st and 2nd law of Mendel obtained from monohybrid
cross.

Dihybrid cross-Inheritance of 2 genes

”It is a cross involving 2 characters/a cross involving plants differing in 2 characters”
Example-1

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Dihybrid phenotypic ratio = 9 : 3 : 3 : 1 Dihybrid genotypic ratio : 1 : 2 : 1 : 2 : 4 :
2:1:2:1
Qn.1 Write the different gametes produced from the plant with genotype TtRr?
Ans:
3. Law of Independent assortment

• This law is formulated from Dihybrid cross

• This 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”

Ie:

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- This law is not applicable for the genes located on the same chromosome
Ie: Linked gene.
- Linked genes are exception to mendelian principle

DEVIATIONFROM MENDLIAN PRINCIPLE

NON MENDELIAN INHERITANCE

- Non-Mendelian inheritance is any pattern of inheritance in which traits do not seg-

regate in accordance with Mendel’s laws
1. Incomplete dominance
> It is the inheritance in which the heterozygous offspring show intermediate character
between 2 parents,
Example-1 * Inheritance of flower colour in the dog flower (snapdragon or Antirrhinum
sp.) and Mirabilis jalapa (4 o’ clock plant) is a good example to understand incomplete
dominance. It was studied by Carl Correns of Germany.

• When Correns crossed a true-breeding red-flowered (RR) Antirrhinum and true

breeding white-flowered Antirrhinum plants (rr), the F1 (Rr) was pink

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 • 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 mono-
hybrid 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). This is due to
incomplete dominance. So the heterozygoys offsprings shows intermediate char-
acter between 2 parents.

2. Co Dominance
* Here both alleles of gene are expressed in heterozygous condition.
* in the case of co-dominance, the F1 generation resembles both parents
Example-1
ABOBlood qroup

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 • ABO blood group is controlled by the gene ’I’

• ’T’ gene has 3 alleles - IA, IB, i

• The allele IA and, IB produce slightly different form of the sugar.

• This sugar are protrudes from the plasma membrane of RBC.

• ”í donot produce sugar

• . When ’ T′ and ’i’ are present in an organism (I Ai ), only I A expressed because

”i’ donot produce any sugar.
′
• When ’ IB and ’ i′ are present in an organism (IBi), only I 8 expressed because ’ i ’
donot produce any sugar.
( )
• When 1A and I B are present in an organism IAIB , they both express their own
type of sugars. This is due to co dominance. Such RBC contains both sugar ’A’ and
’B’ type of sugars.

Blood Group (Phenoype) Genotype

A IAIA, IA
B IBIB, IBI
AB IIIB
0 ii
> There are 4 different phenotype present in ABO blood group
> There are 6 different genotype present in ABO blood group
3. Multiple alleles
Some genes have more than 2 alleles. This phenomenon is called multiple allelism.
Example-1
ABOBlood qroup

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 • ABO blood group is controlled by the gene ’I’ ⇒ ’I’ gene has 3 alleles −IA, IB, i

• These alleles are located at the same locus in a given pair of homologus chromo-
some.
4. Pleiotropy

• Multiple effect of a gene is called pleiotropy. Such genes are called Pleiotropic gene

• Here single gene may produce more than one effect.

• The underlying mechanism of Pleotropy in most case is the effect of a gene on

metabolic pathway-which produce different phenotype.

Example-1
- Starch synthesis in pea seeds
- It has two alleles ( B and b ).
Genotype Phenotype
Starch grain size Seed shape
BB Large Round
bb Small Wrinkled
Bb Intermediate Round
- Here a single gene control both starch grain size and seed shape
Example-2
PKU (Phenykenonuria)
- The disease is caused by the mutation in the gene that code for the enzyme pheny-
lalanine hydroxylase (Single gene mutation)
- it result mental retardation, reduction in hair, pigmentation in skin in patients.
5. Polygenic inheritance

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 • A character whose expression is controlled by number of genes is called polygenic
inheritance.

• Besides the involvement of multiple genes, polygenic inheritance also takes into
account the influence of environment.
Example-1
Human Height
Example-2
Human Skin Colour

• Skin color is controlled by 3 pairs of gene (A,B,C)

• AABBCC– → Dark Skin

• AaBbCc- → Intermediate Color skin

• Aabbcc– → Light color skin

• The number of each type of alleles in the genotype would determine the darkness
or lightness of the skin in an individual.

- Linked genes are exception to mendelian principle

Publication of Mendel’s Work

> Mendel published his work his work in 1865.
> But scientists of his time did not accept his theory because
Reason for non acceptance of Mendel’s work
i. Communication was not easy (as it is now) in those days and his work could not be
widely publicised.
ii. He used maths to explain biological phenomenon was totally new

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iii. He could not provide any physical proof for the existence of factors
iv. 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..

Reason for Mendel’s success

1. Gradual planning
2. Attention was focused only on one
character at a time
3. Maintenance of accurate record of result
obtained
4. Careful
observation
5. His experiments had a large sampling
size, which gave greater credibility to the
data that he collected
6. He was a lucky person (didn’t find
linkage phenomenon

Rediscovery of Mendelian Principle

• In 1900, three scientist namely Carl correns, Hugo De Vries, Von Tschermrk indepen-
dently rediscovered mendel’s results on the inheritance of characters.

• By this time microscope are advanced.

• Scientist observed cell division.

• This lead to the discovery of a structure in the nucleus that appeared to double and
divide just before cell division, these were called chromosome (Colored bodybecause

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 that can see only by staining )

• By 1902 chromosomal movement during meiosis had been worked out.

Chromesomal theory of Inheritamce

• Proposed by Walter Sutton and Theodore Bovery In 1902

• Walter Sutton and Theodore Boveri noted that the behavior of chromosomes was
parallel to the behavior of genes. They used chromosome movement to explain
Mendel’s law.

• They studied behavior of chromosome during mitosis and meiosis.

• Paring and separation of a pair of chromosome will lead to segregation of a pair

of factor they carried”

• Sutton united chromosomal segregation with Mendelian principles and called it as

chromosomal theory of inheritance. It states that ”Genes are located on chromo-
somes and they later segregate and independently assort during meiosis”

Experimental verification of chromosomal theory of inheritance

• The experimental verification of the chromosomal theory of inheritance by Thomas

Hunt Morgan and his colleagues, led to discovering the basis for the variation that
sexual reproduction produced

• He conducted his experiment on tiny Fruit fly (Drossophila melanogaster)

Reason for selecting fruit fly

i. It can grown on simple synthetic medium.
ii. It has short life span ( 2 weeks)

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iii. A single mating produce large
iv. number of progenies. There is clear difference between male and female. (females
v. larger than male ). It has many types of Hereditary variations, that can be seen
with low power microscopes.

6. INKACE

• Morgan carried out several dihybrid crosses in Drosophila to study genes that were
sex-linked. These crosses were similar to the dihybrid crosses carried out by Mendel
in peas.

• Morgan hybridised yellow-bodied, whiteeyed females to brown-bodied, red-eyed

males and intercrossed 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.

• In the cross A, F2 ratio is deviated from normal Mendelian dihybrid ratio (10:6). It is
due to linkage.

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• The physical association of genes in a chromosome is called linkage, such genes
are called Linked genes.

• The term linkage coined by. TH Morgan.

• Linked genes are exception to law of independent assortment.

• In the above cross, The genes for yellow body, white eye and gene for brown body
,red eye are located on X chromosome (Sex linked/X linked genes) and are tightly
linked genes

• Tightly linked genes shows low recombination (Non parent type)

• Loosely linked genes show high recombination (Read Page 84 ,Figure 5.11 NCERT)

Mapping of genes

• Proposed by Alfred Sturtevant (Student of T.H Morgan)

• He mapped position of genes in a chromosome

• He used frequency of recombination between gene pairs on the same chromosome

as a measure of distance between genes.

• Today genetic maps are used as a starting point in the sequencing of whole
genomes as was done in the case of the Human Genome Sequencing Project
(HGP)

Sex Determination

• The chromosome involved in the sex determination is called sex chromosome (Allo-
some). It include ’ X ’ and ’ Y ’ chromosome.

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 • Autosomes are chromosome present in an organism other than sex chromosome.

• The number of autosomes are same in both male and female of same species.

• Henking (1891) studied spermatogenesis in some insects.

• He observed that 50% of sperm received a nuclear structure after spermatogenesis,

other 50% of sperm did not received it.

• Henking called these nuclear structure as ’ X body’, (now it is called as X-chromosome

). but he could not explain its significance

Mechanism of sex determination

- Various types of sex determinations are given below
a)XX-XY mechanism -Human being,drosophila
b)ZZ-ZW mechanism-Birds
c)XX-X0 mechanism-Insects
d)Haplo-Diplody mechanism-Honey bee
a) XX-XY mechanism -Human being drosophila

• Here both male and female have same number of chromosomes.

• Males are heterozygous (XY) and produce 2 types of gametes (Sperms) containing
only ’X’ Or ’Y’ chromosomes ,besides Autosomes.

• Females are homozygoys (XX) and produce only one type of gamete (egg/ovum)
containing only ’ X ’ chromosomes,besides Autosomes.

• Sex of the baby is determined by the type of Sperm entering into the egg

• If the sperm containing ’ X ’ chromosome enter into egg female baby is produced

• If the sperm containing ’ Y ’ chromosome enter into egg, male baby is produced.

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• So sex of the baby is determined by the father not the mother in XX-XY mechanism.

b)ZZ − ZW mechanism − Birds

• Here both male and female have same number of chromosomes.

• Females are heterozygous (ZW) and produce 2 types of gametes (Eggs) containing
only ’ Z ’ or ’ W ’ chromosomes besides Autosomes.

• Males are homozygoys (ZZ) and produce only one type of gamete (Sperms) con-
taining only ’Z’ chromosomes besides Autosomes.

• Sex of the baby is determined by the type of Egg into which sperm enter

• If the Egg containing ’Z’ chromosome Receives a sperm, male baby is produced

• If the Egg containing ’W’ chromosome Receives a sperm, Female baby is produced

• So sex of the baby is determined by the Mother not the Father in ZZ-ZW mechanism.

c) XX-X0 mechanism-Insects (Grasshopper)

• Here males are one chromosome less than (Sex chromosome) that of females

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 • Females are homozygous (XX) and produce only one type of gamete (Egg/Ovum)
containing only ’ X ’ chromosome besides autosomes.

• males are heterozygous (X0) and produce two types of gametes (Sperms). 50%
of sperms contains ’ X ’ chromosomes besides autosomes, the other 50% sperms
contains only autosomes (Sex chromosome absent)

• So sex of the insect is determined by the type of sperm enter in to the egg.

Ie: Male insect will determine the sex of the baby

d)Haplo − Diplodymechanism − Honeybee

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• Here An offspring formed from the union of a sperm and an egg develops as a
female (queen or worker), and an unfertilized egg develops as a male (drone) by
means of parthenogenesis.

• Here females are diploid (32 chromosomes) and males are Haploids (16 chromo-
somes), this type of sex determination is called haplo-diploidy sex determination

• Here males (Drone) produce sperms by mitosis. They do not have father and thus
cannot have sons, but have grandfather and have grandsons.

PEDIGREE ANALYSIS
• It is the analysis of trait in a several generations of a family is called pedigree
analysis.

• Here inheritance of a particular trait is represented in the family tree (Chart showing
family history) over generation.

• This analysis is used to trace the inheritance of a specific trait or abnormality or a

disease

• The symbols used in pedigree analysis is given below

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GENETIC DISSORDERS

A) Aendelian dissorder
- It is due to mutation or alteration in the single gene.
- This disorder are transmitted to the offspring as we studied in the principles of in-
heritance
- This disorder can be traced in a family using pedigree analysis.

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1.HAEM OP HILIA/BLEEDER′SDISEASE/ROY ALDISEASE

• It is a sex linked (X-linked) recessive disease

• Here a single protein that is a part of chain (cascade) of protein involved in clotting
of blood is affected. Due to this, in affected individual a simple cut will result nonstop
bleeding

Genotypes are

• Normal male

• Normal female XHY

• Hemophilic male X HX H

• Hemophilic female XhY

• Hemophilic carrier (Female-) X hX h

• The disease is transmitted unaffected carrier female (XHXh) to some of male

progeny

• The possibility of a female becoming hemophilic is extremely rare, because mother

of such female has to be at least carrier and father should be hemophilic (He is
unviable in the later stage of life)

• The family pedigree of Queen Victoria shows number of hemophilic descends. she
was a carrier for this disease.

2. COLOUR BLINDNESS
• It is a sex linked (X-linked )recessive disease

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• It is due to defect in either red or green cone of eye resulting in failure to discrim-
inate between red and green colour

• This defect is due to mutation in certain gene present in the X- Chromosome

The genotypes are

- Normal male XCY
- Normal female XCXC
- Color blind male XcY
- Color blind female XcXc
- Color blind carrier (Female) XCXc
• It occurs 8% of male and 0.4% of female

• This is due to gene mutation for red and green colour. They are located on XChro-
mosome. Males have only one XChromosome and female s have two X chromo-
some.

• A daughter will not be normally colour blind unless her mother is a carrier and
father is a color blind.

3.PKU (PHENYLKETONURIA)

• This is the autosomal linked recessive trait.

• PKU is an inborn error in amino acid metabolism

• The affected individual lacks an enzyme (phenylalanine hydroxylase) that con-

verts the amino acid phenylalanine into tyrosine. As a result of this phenylalanine
is accumulated and converted into phenylpyruvic acid and other derivatives. Accu-
mulation of these in brain results in mental retardation. These are also excreted
through urine because of its poor absorption by kidney.

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The genotypes are
- Normal AA
- Carrier Aa
- Affected aa
- This disease is transmitted from parents to the offspring when both parents are
carried (Heterozygous)
4.SICKLE CELL ANAEMIA
• This is an autosome linked recessive trait

• This can be transmitted from parents to the offspring when both the partners are
carrier for the gene (or heterozygous).

• The disease is controlled by a single pair of allele, HbA and HbS.

Genotypes are
• NormalHbAHbA

• Carrier HbAHbS

• Affected HbsHbs

• This disease is transmitted from parents to the offspring when both parents are
carrier (Heterozygous)

• 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

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Pedigree analysis-Sickle cell anaemia

5.THALASSEMIA
- This is the autosomal linked recessive trait.:
The genotypes are
Normal AA
- Carrier Aa
- Affected �a
- This disease is transmitted from parents to the offspring when both parents are
carrier (Heterozygous)

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 • Here, production of globin chain is affected. This causes the formation of abnormal
Hb resulting in to anaemeia

• Thalassemia can be classified according to which chain is affected

a) α-thalassemia
b) β-Thalassemia
a) α-thalassemia
• Here production of alpha globin chain is affected - α-thalassemia is controlled by
2 closely linked gene-HBA-1, and HBA-2

• These genes are located on the chromosome number 16 of each parent

• Mutation or deletion of one or more of the 4 genes results alpha thalassemia

• The more gene is affected, less alpha globin molecule is produced

6.MYOTONIC DYSTROPHY
- This is an autosomal dominant trait Pedigree analysis-Myotonic dystrophy

B)chromosomal dissorder
- It is due to absence or excess or abnormal arrangement of one or more chromosome

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1. Down’s Syndrome (45 + XX or 45A + XY )
- This is due to an additional copy of the chromosome number 21 (trisomy of 21).
- This disorder was first described by Langdon Down (1866). Symptoms
- The affected individual is
X short statured
X with small round head,
X with furrowed tongue and with partially open mouth
X Their Palm is broad with characteristic palm crease
. X Physical, psychomotor and mental development is retarded.

2. Klinefelter’s Syndrome (44A+XXY)

- This genetic disorder is also caused due to the presence of an additional copy of

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Xchromosome resulting into a karyotype of 47, XXY.
Symptom
- Such an individual has overall masculine development, however, the feminine devel-
opment (development of breast, i.e., Gynaecomastia) is also expressed. Such individuals
are sterile

3. Turner’s Syndrome: (44 A + X0)

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

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