Chp 5- Principles of Inheritance

and variation

Rajni Sharma, PGT Biology

Kendriya Vidyalaya Happy Valley, Shillong
 Learning Objectives
At the end of this presentation you will be able to :
➢ Define the term Genetics, Inheritance and Variation
➢ Apply the different terms related to inheritance
➢ Know about why Mendel chose pea plant for his experiments
➢ Analyse the results of monohybrid cross
➢ Apply the concepts of segregation in any cross
➢ Prove that law of Segregation is Universal
➢ Able to explain the Law of Independent assortment using a Dihybrid
cross
Genetics, Heredity, Inheritance and Variation
Genetics : It is a branch of biology that deals with the study of heredity and
variations. The term genetics was first used by W.Bateson (1905).
Heredity: It is the study of transmission of characters from parents to offspring or
from one genetion to the next. The characters that are passed from one generation to
the next are called hereditary characters.
Inheritance : It is the process by which the offspring or cell acquires the characters of
its parents or cell. During the process certain variations may occur.
Variation : It can be defined as the differences in characteristics shown by the
individuals of a species and also by the offsprings or siblings of the same parents.
Lets understand some more terminologies...
Gene : the inherited factor that determine the biological character of an organism.
Allelomorph or allele : A pair of contrasting traits is called as allele
Dominant allele : it is one of the factor of an allele pair which can express itself whether
present in homozygous or heterozygous state. E.g, T (tallness in pea), R (round seed in
pea).
Recessive allele : It is the factor of an allele pair which is unable to express its effect in
the presence of its contrasting factor in a heterozygote. E.g, t in Tt
Homozygous condition: Two similar alleles (TT or tt)
Heterozygous condition: Two dissimilar alleles (Tt)
Monohybrid cross : When only one allelic pair is considered in cross breeding it is
called Monohybrid cross.Eg Cross between a Tall(Tt) and Dwarf(tt) pea plant.

Dihybrid Cross : When two allelic pairs are used for crossing it is called dihybrid
cross. Eg. Cross between TTvv and TTVV

Genotype : It is the sum total of heredity or genetic makeup.

Phenotype : It is the external feature of an organism.

Punnett Square : It is a checker board devised by R.C.Punnett and used to show the
result of a cross between two organisms.
 Mendelism
● Gregor Johann Mendel (1822-84) was an Austrian
monk who discovered the basic principles of
heredity through experiments on garden pea in
1865.
He is called as the father of genetics because he
was the first to workout the patterns of heredity by
performing experiments on garden pea (Pisum
sativum)
His laws of heredity was described in his paper
“Experiments on Plant Hybridization” which was
published in 1856.
At the time Mendel’s discoveries were neglected. It was in 1900, that Mendels laws were
rediscovered simultaneously by three great scientists namely Hugo de Vries, Erich von
Tschermark and Carl Correns. This theory is now known as Mendelism.
● Mendel has conducted hybridization experiments on garden pea(Pisum
sativum).
The number of characters studied by Mendel in pea plant was seven.
The number of chromosomes in Pisum sativum is 14 (2n).
Mendel restricted his experiments to one or few pairs of contrasting traits in
each experiments.
Mendel selected Pea plant for his experiment because:
-It has a number of well defined contrasting characters.
-It has bisexual flowers
-It shows predominantly self fertilization (thus pure breeds are easily
available)
-Hybridization or crossing is easy in pea.
-It has short life span, thus greater number of generations can be
studied in a short period.
Mendels Hybridization
experiment involved
following steps-
Selection
Hybridization
Selfing
Calculations
 PEA PLANT TRAITS

SEED SHAPE SEED COLOR POD SHAPE POD COLOR FLOWER COLOR F. POSITION HEIGHT

ROUND YELLOW INFLATED GREEN PURPLE AXIAL TALL

WRINKLE GREEN CONSTRICTED YELLOW WHITE TERMINAL SHORT

D
 MENDEL’S LAWS OF
INHERITANCE
1. LAW OF This law states that when two alternative forms of a trait or character
DOMINANCE
are present in an organism, only one factor expresses itself in F1
progeny and is called dominant while the other that remain masked is
called recessive.
2. LAW OF SEGREGATION
This law states that the factors or alleles of a pair segregate from
each other during gamete formation, such that a gamete receives
only one of the two factors.
3. LAW OF
According to this law the two factors of each character assort or
INDEPENDENT
ASSORTMENT separate out independent of the factors of other characters at the
time of gamete formation.
MONOHYBRID CROSS
P TT ⨯ tt
TALL DWARF

Gametes T t

F1 Tt

Gametes T t

F2 ♀ T t

T TT Tt

t Tt tt
DIHYBRID
CROSS
LETS CHECK YOUR UNDERSTANDING…...
1. A diploid organism is heterozygous for 4 loci, how many types of gametes can be
produced?
2. When a cross is made between tall plant with yellow seed (TtYy) and tall plant with green
seed (TTyy), what proportions of phenotype in the offspring could be expected to be a) tall and
Green b) dwarf and green?

3. Mendel crossed plants that bred true for yellow seeds with plants that bred true for green
seeds. All seeds in the F1 generation were yellow. Work out the inheritance involved in this
cross by using symbols for the trait. Which trait was dominant?
Practice Questions :
1. In a plant, red fruit (R) is dominant over yellow fruit (r) and tallness (T) is
dominant over shortness (t). If a plant with RRTt genotype is crossed with
a plant that is rrtt, what will the phenotypic ratio of the F2 offspring.
Workout the cross to obtain the result.
2. In Mendels experiments with garden pea, round seed shape (RR) is
dominant over wrinkled seed (rr), yellow cotyledon was dominant over
green cotyledon (yy). What are the expected phenotypes in the F2
generation of the cross RRYY and rryy?
 TEST CROSS
Test cross is the cross between an individual with dominant trait and a
recessive organism in order to know whether the dominant trait is
homozygous or heterozygous.
Lets try solving the following problems..
1. Two tall pea plants are crossed producing 105 tall
plants and 32 short plants. What would be the
genotypes of the parents?

2. In mice brown (B) is dominant to white (b). A brown

mice is mated with the white mice. Twelve brown mice
are produced what would be the genotype of the
brown mice?
DEVIATIONS
FROM
MENDELISM….
Non-Mendelian inheritance is any pattern of
inheritance in which traits do not segregate in accordance with
Mendel's laws.
●
Incomplete
It is a post Mendelian discovery. Incomplete dominance is the
dominance
phenomenon of neither of the two alleles being dominant so that
expression in the hybrid is a fine mixture or intermediate between
the expressions of two alleles.
● In snapdragon (Antirhhinum majus), there are two types of pure
breeding plants, red flowered and white flowered. On crossing the
two, F1 plants possess pink flowers. On selfing them, F2 generation
has 1red: 2 pink: 1white. The pink flower is due to incomplete
dominance.
Four-o’ clock flowers
(Mirabilis jalapa)
• Incomplete dominance
• Neither Red (R) nor White (r) is dominant when a
homozygous red flower (RR) mix with a homozygous
white flower (rr), the alleles blend in the hybrid (Rw) to
produce pink flowers.
CODOMINANC
E
It is the phenomenon
of two alleles lacking
dominance-recessive
relationship and both
expressing themselves
in the organism.
 Codominance
● Human beings, ABO blood grouping are
controlled by gene I. The gene has three
alleles IA, IB and i. Any person contains any
two of three allele IA, IB are dominant over 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.
● When IA and IB are present together, both
express their own types of sugars because of
co-dominance.
CODOMINANCE IN
COW
HUMAN BLOOD GROUP
Contd...

Genetic basis of blood grouping in humans...

Multiple More than two alternative forms (alleles) of a gene in a
population occupying the same locus on a
Allelism chromosome is known as multiple allelism.
● The ABO blood group in human is determined by three alleles, IA, IB and i.
● It can only be studies in a population.
Let's work out few problems...
1. A child has blood group O. If the father has blood group A and mother has
blood group B , workout the genotypes of the parents and the possible
genotypes of the offsprings.
2. A man with blood group A married a woman with blood group B group.
They have a son with AB blood group and a daughter with blood group O.
Work out the cross and show the possibility of such inheritance.
Did you understand the topics so far...Now try
solving this-
● A man with type AB blood is married to a woman also with type AB blood. Show
the cross. What proportion of their children will have ‘A’ blood group?
● A man has type B blood (genotype BB) is married to a woman with type O blood.
Show the cross. What proportion of their children will have ‘B’ blood group?
● A man with type AB blood is married to a woman with type O blood. They have
two natural children and one adopted child. Jane has type A blood, Jordan has type B
blood, and Marlin has type O blood. Which child was adopted? How do you know?
 Pleiotropy
● It is the phenomenon in which a single
gene exhibits multiple phenotypic
expressions.
● The pleiotropic gene affects the
metabolic pathways, resulting in
different phenotypes.
● For example, phenylketonuria is caused
by mutation in the gene, coding for the
enzyme phenylalanine hydroxylase.
The affected individuals show mental
retardation as well as reduction in hair
and skin pigmentation.
 POLYGENIC
● INHERITANCE
It is a type of inheritance, in which a trait is
controlled by three or more genes. Such
traits are called polygenic traits.
● The phenotype reflects contribution of each
allele and is also influenced by the
environment.
● For example, human skin colour. Suppose
3 genes A,B and C control skin colour with
A, B ,C being the dominant alleles and a, b,
c being the recessive alleles.
● The F2 generation will have varied skin
tones, with each type of allele in the
genotype determining the darkness or
lightness of the skin.
 Chromosomal Theory of Inheritance
● The chromosomal theory of
inheritance was proposed
independently by Walter
Sutton and Theodore
Boveri in 1902.
● They stated that behaviour
of chromosomes was
parallel to behaviour of
genes and used
chromosome movement to
explain Mendel’s laws.
Walter Sutton Theodore Boveri
According to this theory :
● Chromosomes are vehicles of heredity. They are transmitted from parents to
offsprings.
● Two identical chromosomes with similar genes form a homologous pair.
● Both chromosomes as well as genes occur in pairs in the somatic or diploid
cells.
● Homologous chromosomes synapse during meiosis and get separated to pass
into different cells .A gamete receives only one chromosome of each type and
thus has only one gene for a trait.
 Linkage and Recombination
T. H. Morgan carried out several breeding experiments in Drosophila melanogaster to study the genes
that are sex -linked.

T. H. Morgan Fruit fly Fly room

Reason for selecting Drosophila melanogaster (fruit
fly) as an experimental organism-
● They could be grown on simple synthetic
medium in the laboratory.
● They complete their life cycle in two weeks.
● A single mating could produce a large
number of progeny.
● There was clear differentiation of the
sexes,i.e. Male and female flies are easily
distinguishable.
● It has many types of hereditary variations
that can be seen with low power
microscopes.
Lets understand the results of two
dihybrid crosses conducted by Morgan..
 Vestigial or short wings

Wild type (normal)

White eyed

Yellow bodied
 Linkage is the phenomenon of certain genes staying together
and their en block inheritance from generation after generation.
● Genes are arranged in linear fashion on the chromosome.
● Some genes arranged in close proximity are always inherited together i.e
become linked.
● Strength of the linkage between two genes is inversely proportional to the
distance between the two.
● All those genes which are located in the single chromosome constitute a
linkage group.
● The number of linkage groups in a species corresponds to its haploid number of
chromosomes.For example, there are four linkage groups in Drosophila, 23 in
man, 7 in sweet pea and 10 in maize.
Types of Linkage
Complete Linkage Incomplete Linkage

● It is a linkage or grouping of genes ● It is the phenomenon of an occassional

on a chromosome which is not crossing over between two homologous
altered and is inherited as such chromosomes so that one or more alleles
from generation to generation present in a linkage group are replaced by
without any cross-over. other alleles.
● It is rare but has been reported in ● It produces both parental and recombinant
Drosophila. individuals.
● Parental types are more than 50 % of
population while recombinants are less
than 50 %
RECOMBINATION
 PEDIGREE
● Pedigree is a chart showing a ANALYSIS
record of
inheritance of certain traits for two or more
ancestral generations of human being in the form
of a diagram of family tree.
● It is a system of analysis by following the
movement and distribution of certain genetic
traits.
ADVANTAGES/USES OF PEDIGREE ANALYSIS :

It helps in genetic counselling to avoid disorders in future

generations.

It is important to know the possibility of expressive

recessive allele that can cause genetic disorders like
colour blindness, haemophilia etc.
 It helps to understand whether the trait is
dominant or recessive autosomal or sex-linked .

It predicts the harmful effects of marriage between close-

relatives.

It is extensively used in medical research.

contd...
 For solving problems on Pedigree Analysis

First, it is important to note that most traits tend to fall into certain limited
categories:
● dominant or recessive
● autosomal or sex-linked
What does an autosomal recessive pedigree look
like?
 Recessive traits
- a recessive trait commonly skips one or more generations
- recessive conditions are frequently found in pedigrees that include
marriage between close relatives
- in a marriage of two affected individuals, all of the offspring will be
affected
- if both parents are heterozygous, any child of theirs will have a 50%
chance of being a heterozygous carrier
and a 25% chance of being homozygous recessive and affected

contd...
 What does an autosomal dominant pedigree look
like?
Dominant traits
- a fully dominant trait typically appears in each
generation, because the allele usually is expressed
even in heterozygotes; it will therefore not skip
generations and will therefore often appear to be
relatively common in a pedigree
- unaffected parents will have only unaffected
offspring

contd...
Try solving some problems now..
1. The pedigree shown here tracks the presence of
dimples through a family's generation. Having
dimples is an autosomal dominant trait.

If individual III-3 married a woman who was

heterozygous for dimples, what is the percent chance their
children will have dimples?

https://www.youtube.com/watch?v=11s5Biyi9q4
a) 0% b) 25% c) 75% d) 100%
2. Study the pedigree chart of a certain family given below and select the correct conclusion
which can be drawn for the character.

a) The male parent is heterozygous.

b) The parents could not have had a normal daughter for this character.
c) The trait under study could not be colour blindness.
d) The male parent is homozygous dominant.
Mendelian
Disorders
Mendelian Disorders:
● Mendelian disorders are caused due to alteration or mutation in single gene.
● These follow Mendel's principles of inheritance.

Haemophilia Phenylketonuria

Sickle- cell anaemia

Thalassemia Colour Blindness

 Haemophilia
● It is a sex linked recessive disorder.
● Patient continue to bleed even with a minor cut
because of a defect in blood coagulation.
● The genes for haemophilia is located on X
chromosome.
● The defective alleles produce non-functional
proteins which later form a non-functional cascade
of proteins involved in blood clotting.
● Queen Victoria was a carrier of this disease and
produced haemophilic offsprings.
 Sickle-cell anaemia
● It is an autosomal-linked recessive trait.
● The disease is controlled by a single pair of allele HbA
and HbS.
● Due to point mutation, glutamic acid (Glu) is
replaced by valine (Val) at the sixth position of 𝛃-
globin chain of haemoglobin molecule.
● It occurs due to single base substitution at 6th codon of
𝛃-globin gene from GAG to GUG. Mutated
hemoglobin molecule change in the shape of RBC
from biconcave to elongated sickle like structure. As a
result the cells can’t pass through narrow cappillaries.
 Phenylketonuria

● Inborn error of metabolism, autosomal recessive trait.

● Affected individual lacks an enzyme that converts the amino acid

phenylalanine into tyrosine.

● Due to which, phenylalanine gets accumulated and converted into

phenylpyruvic acid and other derivatives.

● This causes mental retardation.

 Thalassemia
● It is an autosome linked recessive
disease.
● It occurs due to either mutation or
deletion resulting in reduced rate
of synthesis of one of globin
chains of haemoglobin.
● Anaemia is the characteristic of
this disease.
 STRUCTURE AND ROLE OF HEMOGLOBIN - A DEEP LOOK

contd..
 𝛃-Thalassemia 𝞪-Thalassemia
● With Beta thalassemia there is a ● With Alpha thalassemia there is
partial or complete beta globin a partial or complete alpha
chain deficiency due to a point globin chain deficiency due to
mutation, where a single deletion of alpha genes (one or
nucleotide is replaced by another more alpha genes).
nucleotide. ● The genes resides on
● This gene resides on chromosome 16.
chromosome no.11
contd..
 Colour Blindness
● It is a sex linked recessive disorder.
● It results in defect in either red or
green cone of eye, resulting in failure
to discriminate between red and green
colour.
● The gene for colour blindness is
present on X chromosome.
● It is observed more in males because
of presence of only one X
chromosome as compared to two
chromosomes of females.
 Sex-linked Inheritance
● Sex-linked inheritance is the transmission of
characters and their determining genes along with
the sex chromosomes.
● Most sex-linked genes are located on the X-
chromosome.
● Sex linked genes follows a criss-cross inheritance .
● Father does not pass the sex-linked allele of a
trait to his son. The same is passed to the daughter.
● Mother passes the alleles of a sex-linked traits to
both son and daughter.
● Majority of the sex-linked traits are recessive.
Let’s understand the sex-linked inheritance with
the help of some crosses
 Let's work out some problems now
1. Marriage between a normal couple resulted in a son who was hemophilic and a
normal daughter. In course of time, when the daughter was married to a normal
man, to their surprise, the grandson was also hemophilic.
Represent this cross in the form of a pedigree chart. Give the genotypes
of the daughter and her husband.

2. A couple with normal vision bear a colour blind child. Work out a cross to
show how it is possible and mention the sex of the affected child.
Try solving some problems by
yourselves….
1. A colour blind man marries a woman with normal vision whose father was
colour-blind. Work out a cross to show the genotypes of the couple and their
respective son.
2. A non-hemophilic couple was informed by their doctor that there is possibility
of a hemophilic child be born to them. Explain the basis on which the doctor
convey this information. Give the genotypes and the phenotypes of all the
possible children who could be born to them.
 Chromosomal
Disorders
are caused due to excess, absence or abnormal
arrangement of one or more chromosomes
Chromosomal Disorders can be classified as:
Aneuploidy
Polyploidy

1. Aneuploidy : Sometimes the chromatids fail to segregate during cell division,

resulting in gain or loss of a chromosome. This is called Aneuploidy. It is of two
types:
a) Trisomy : Additional copy of a chromosome in an individual (2n +1)
b) Monosomy : Lack of copy of a chromosome in an individual (2n -1)

2. Polyploidy : Failure of cytokinesis after telophase stage of cell division results in

an increase in whole set of chromosome in an organism. It is called polyploidy. It is
often seen in plants.
Downs Syndrome :
Cause : Additional copy of chromosome number
21 or trisomy of chromosome 21
Symptoms:
i) Short statured with small round head.
ii) Partially open mouth with protruding
furrowed tongue.
iii) Palm is broad with characteristic palm crease.
iv) Physical, psychomotor and mentally retarded.
Klinefelter’s Syndrome
Cause : Presence of an additional copy of X
chromosome resulting in the karyotype
44+XXY,i.e.,47 chromosomes.

Symptoms :

i) Sex of the individual is masculine but possess

feminine character.
ii) Gynaecomastia i.e, development of breast.
iii) Poor beard growth and often sterile.
iv) Tall stature
Turner’s Syndrome
Cause : Absence of one of the X chromosomes,
resulting in the karyotype 44+XO i.e, have 45
chromosomes
Symptoms:
i) Sterile female with rudimentary ovaries.
ii) Lack of other secondary sexual characters.
iii) Underdeveloped feminine character.
iv) Poor development of breasts.
v) Short stature, small uterus, puffy fingers.
Thank you