PRINCIPLES OF INHERITANCE AND VARIATION – PART 1

Genetics
Genetics is the branch of science which deals with the inheritance and variation of
characters from parent to offspring.
Inheritance
It is the process by which characters are passed on from parent to progeny.
Variation
It is the degree by which progeny differ from their parents.
Gregor Johann Mendel
• Mendel was an Austrian Monk who is considered as the “ father of genetics”
• Mendel conducted so many hybridization experiments with garden pea plant and
proposed the famous “Mendel’s laws of Inheritance”
Mendel’s experimental material
• The experimental material selected by Mendel was garden pea plant,
‘Pisum sativum’.
• The garden pea plant was true breeding variety.
• True breeding plants are the plants which undergo continuous self pollination and
shows stable trait inheritance for several generations.
• The garden pea contains large number of contrasting characters and out of which
Mendel selected only seven characters.
• Each character has two alternatives or verities

INHERITANCE OF ONE GENE

• To study inheritance of one gene Mendel crossed tall and dwarf pea plants.
• The seeds produced as a result of this cross are collected and grew.
• This hybrid generation is called Filial 1 progeny or the F 1 generation.
• Mendel observed that all the F 1 progeny plants were tall .No dwarf is observed.

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 • Mendel the self pollinated the tall F 1 plants and F 2 generation is produced. In the
F 2 generation he got tall and dwarf plants in the ratio 3:1 ie, 75% tall plants and
25% dwarf plants.
• He got similar results with other traits also The character in the F 1 and F 2
generation did not show any blending at either F 1 or F 2 stage ie,they are identical
to the parental type.
Genes
 Based on the observations of Mendel‘s experiments he proposed that something was
being stably passed down, unchanged from parent to offspring through gametes.
 Mendel called these things as ‘factors’ and now they are called as genes.
 “ Genes are the units of inheritance which contain the information for the
expression of a particular trait in an organism.”

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 Monohybrid Cross
A cross involving two plants differing in one character pair is called monohybrid
cross.
• In Monohybrid cross Homozygous tall (TT) is crossed with homozygous dwarf
(tt).
• In F1 generation all the plants were Heterozygous tall (Tt).
• The F 1 plants are then self pollinated.
• Self pollination produces gametes of the genotype T and t in equal
proportions.
• The resultant zygotes have the genotypes TT , Tt and tt.
• 1/4 th of the progeny is TT , 1/2 is Tt and 1/4 th is tt.
• This gives the genotypic ratio 1TT: 2Tt :1tt (1:2:1) and phenotypic ratio
3Tall: 1Dwarf (3:1)

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 PRINCIPLES OF INHERITANCE AND VARIATION- PART 2

TEST CROSS
• Test cross is a genetic cross which is used to find out whether the
dominant individual is homozygous or heterozygous for a particular
character.
•It is the crossing of an F 1 hybrid with its recessive parent .
• In a typical test cross dominant individual is crossed with the
recessive parent
• If the dominant plant is homozygous it will produce only one type of
progeny.
• If the dominant plant is heterozygous it will produce two type of
progeny in the 1:1 ratio . This ratio is called typical monohybrid test
cross ratio.
Example - 1
A heterozygous tall plant (Tt) is crossed with recessive Parent (tt).
We get tall and dwarf plant in the ratio 1 : 1

Example 2
• To find out the genotype of dominant violet flowered plant (whether
WW or ww), it is crossed with homozygous recessive white flowered
plant (ww).
• If the dominant violet flowered plant is homozygous (WW) all the
progeny produced will have the genotype Ww and phenotype violet
flower.
• If the dominant violet flowered plant is heterozygous (Ww) the progeny
will have the genotype Ww and ww and phenotype violet and white in
the ratio 1:1

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Mendel’s laws of inheritance
Based on the observations on monohybrid crosses Mendel proposed two
general rules of inheritance known as principles or laws of inheritance ,
They are,
1.First law or Law Of Dominance
2. Second law or Law Of Segregation

LAW OF DOMINANCE
(i) Characters are controlled by discrete units called factors.
(ii) Factors occur in pairs.
(iii) In a dissimilar pair of factors one member of the pair
dominates (dominant) the other (recessive).

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 • The law of dominance is used to explain the expression of only one of
the parental characters in a monohybrid cross in the F 1 and the
expression of both in the F 2 .
•It also explains the proportion of 3:1 obtained at the F 2 .
LAW OF SEGREGATION
• This law states that during gamete formation, the two factors for a
character present in an individual will separate and segregate with
each other . So that a gamete receives only one of the two factors.
• As per this law, 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.

Factors separates
During gametogenesis

INCOMPLETE DOMINANCE
The type of inheritance in which the F 1 phenotype do not resemble
either of the two parents but shows an intermediate character is called
incomplete dominance.
Example
The inheritance of flower colour in the dog flower (snapdragon or Antirrhinum sp)
• In a cross between homozygous red flowered plant (RR) with
homozygous white flowered plant(rr) the F 1 (Rr) was pink instead of
red.
• When F 1 was self fertilized the F 2 resulted the following ratio
1Red (RR) : 2Pink(Rr) : 1White.
• Here the genotypic and phenotypic ratio is 1:2:1.

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 • This happens because R is not completely dominant over r. So Rr
shows an intermediate pink colour

Phenotypic ratio : 1 Red : 2 Pink : 1 White

Genotypic ratio : 1 RR : 2 Rr : 1 rr
Phenotypic ratio = Genotypic ratio
=1:2:1
Incomplete dominance is a genetic phenomenon in which
both Genotypic and phenotypic ratio are same ie, 1 : 2 : 1

Explanation of the concept of dominance

Every gene contains the information to express a particular trait.
In a diploid organism, the genes occurs in pairs known as alleles .
The alleles for a particular trait need not be always identical. One of them may be
different due to some changes that it has undergone.
This changes modifies the information that particular allele contains
the modified allele could be responsible for
production of –
(i) the normal/less efficient enzyme, or
(ii) a non-functional enzyme, or
(iii) no enzyme at all
Hence, in incomplete dominance the recessive trait is seen due to non-functional
enzyme or because no enzyme is produced.

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 PRINCIPLES OF INHERITANCE AND VARIATION- PART 3

CO –DOMINANCE
• It is the phenomenon in which F 1 generation resembles
both the parents
Eg : ABO- Blood group in human beings
• The blood group is determined by the sugar polymers present on the
plasma membrane of RBC and which is controlled by the gene I

• The alleles IA and IB produce different sugars, while the allele i does not
produce any sugar.
• Each person has any two of the 3 alleles.
• Both IA and IB are dominant over I, ie, if IA and i together present in a
person only IA expresses.
• But IA and IB are co- dominant, ie , they both express their own types of
sugars.
• Since there are 3 different alleles, there are 6 different combinations
and a total of six different genotypes.

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 The alleles IA and IB produce different sugars while the allele i does
not produce any sugar.
Each person has any two of the 3 alleles.
Both IA and IB are dominant over i , ie, if IA and i together present in a
person only IA expresses.
But when IA and IB are present together they both express their own
types of sugars: this is because of co-dominance.
Hence red blood cells have both A and B types of sugars.
Since there are 3 different alleles, there are 6 different combinations
and a total of six different genotypes.

Multiple alleles
More than two alleles of a gene are called multiple alleles and the
phenomenon is called multiple allelesim.
 ABO-Blood group in man is an excellent example for multiple allelism .
Here three alleles determine the same character.
In an individual only two alleles can be present.

Multiple alleles can be found only when population studies are made.

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A single gene product may produce more than one effect.

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Substantiate the statement.
Eg : Starch synthesis in pea seeds - controlled by one gene

Starch synthesis in pea is controlled by two alleles (B and b).

Starch is synthesised effectively by BB homozygotes and therefore, large
starch grains are produced.
In bb homozygotes have lesser efficiency in starch synthesis and produce
smaller starch grains.
After maturation of the seeds, BB seeds are round and the bb seeds are
wrinkled.
Heterozygotes produce round seeds, and so B seems to be the dominant allele.
But, the starch grains produced are of intermediate size in Bb seeds. So if starch
grain size is considered as the phenotype, then from this angle, the alleles show
incomplete dominance

• Mendel selected two characters together in a dihybrid cross.

• He selected two characters namely the seed colour (yellow
and green) and seed shape (round and wrinkled) of the pea
plant.
• Yellow colour (YY) and round shape (RR) is dominant over green colour
(yy) and wrinkled shape(rr).
• In the first step Mendel crossed round yellow seeds (RRYY) with
wrinkled green (rryy)seeds.
• In the F 1 generation all the seeds were round yellow with the
genotype RrYy,showing the dominant characters.
•

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In the second step, F 1 offsprings were self fertilized and
F2 generation was made.

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 Explanation of Law Of Independent Assortment with Punnett square
The Punnett square can be used to understand the independent segregation
of the two pairs genes during meiosis and the production of
eggs and pollen in the F 1 hybrid RrYy plant.
The F 1 hybrid Rr Yy plant produces four types of gametes such as RY ,
Ry , rY and ry .
The cross of two such plants produce 16 combinations as per the table.
Out of the 16 combinations 9 are round yellow because they have both
dominant genes R and Y.
3 combinations are round green, because they have dominant R gene for
round and recessive gene for green y.

Other 3 combinations are wrinkled yellow because they have dominant

gene for yellow(Y) and recessive gene for wrinkled shape (rr).
One combination is wrinkled green because it has both recessive gene r
and y.
Thus the phenotypic ratio of dihybrid cross is 9:3:3:1 (9round yellow: 3round
green: 3wrinkled yellow: 1 wrinkled green).
The genotypic ratio of dihybrid cross is
1: 2: 1 : 2 : 4 : 2 : 1 : 2 : 1
1 RRYY (round yellow) : 2RrYY(round yellow) :
1 rrYY (wrinkled yellow) : 2 RRYy (round yellow) :
4 RrYy (round yellow) : 1RRyy (round green) :
2 rrYY (wrinkled yellow) : 2 Rryy(round green) :
1 rryy (wrinkled green).

LAW OF INDEPENDENT ASSORTMENT

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 PRINCIPLES OF INHERITANCE AND VARIATION- PART 4

• Communication was not easy in those days

• Mendel’s concept of genes or factors, as stable and discrete units that
controlled the expression of traits was not accepted by his
contemporaries.
• Mendel’s approach of using mathematics to explain biological
phenomena was totally new and unacceptable to many of the biologists
of his time.
• Mendel could not provide any physical proof for the existence of factor.

Scientists who rediscovered Mendel’s results on the inheritance of

characters.

de Vries, Correns and von Tschermak

Chromosomal Theory of Inheritance
Sutton and Bovery explained the chromosome theory of
inheritance in 1902.
They noted that the behaviour of chromosomes was parallel to the
behaviour of genes and they used chromosome movement to explain
Mendel ’ s laws

Chromosomes as well as genes occur in pairs. The two alleles of a gene

pair are located on homologous sites on homologous chromosomes.

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 Experimental verification of
the chromosomal theory of inheritance was done by Thomas Hunt Morgan and
his colleagues.
Morgan worked with the tiny fruit files Drosophila melanogaster.

• They could be grown on simple synthetic medium in the laboratory.

• They complete their life cycle in about two weeks.
• A single mating could produce a large number of progeny flies.
• There was a clear differentiation of the sexes – the male and female
flies are easily distinguishable .
• It has many types of hereditary variations that can be seen with low
power microscopes.
Linkage and Recombination
• Morgan hybridised yellow-bodied, white-eyed females to brown-bodied,
red-eyed males and inter crossed their F 1 progeny.
• He observed that the two genes did not segregate independently of
each other and the F 2 ratio deviated very significantly from the 9:3:3:1
ratio.

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Major findings of Morgan’s Experiment

• The genes for white and yellow were very tightly linked and showed
98.7% parental type and only 1.3 per cent shows recombination.
• The genes for white and miniature wing were loosely linked showed
62.8% parental type and 37.2 per cent shows recombination.
• If the genes are closely arranged in a chromosome linkage is high
and shows low recombination.
• If the genes are distantly arranged in a chromosome linkage is low
and recombination is high.

In Morgan’s experiment linkage happened because

the genes were located on the same X- chromosomes.
Thus when two genes in a dihybrid cross were situated on the
same chromosomes, the proportion of the parental gene
combinations was much higher than the non-parental type
due to linkage
Linkage
Linkage is the phenomenon of co-existence of two or more
genes in the same chromosomes.
Such genes are called linked genes .
Linked genes do not show independent assortment.
Recombination
The term recombination is used to describe the generation of
non-parental combinations.

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 BTL’S Biology Classes

PRINCIPLES OF INHERITANCE AND VARIATION

PART 5 & 6

POLYGENIC INHERITANCE

Traits that are generally controlled by three or more genes

are called as polygenic traits

Eg: Height of people

Human skin colour

• In a polygenic trait the phenotype reflects the contribution of

each allele, i.e., the effect of each allele is additive.
• Three genes A, B, C control skin colour in human with the
dominant forms A, B and C responsible for dark skin colour.
• Recessive forms a, b and c for light skin colour.
• The genotype with all the dominant alleles (AABBCC) will
have the darkest skin colour.
• The genotype with all the recessive alleles (aabbcc) will
have the lightest skin colour.
• The genotype with three dominant alleles and three
recessive alleles (AaBbCc)will have an intermediate skin
colour.
• In this manner the number of each type of alleles in the
genotype would determine the darkness or lightness of the
skin in an individual.
PLEIOTROPY

A single gene exhibiting multiplephenotypic expression is called a

pleiotropic gene and the phenomenon is Pleiotropy

• Pleiotropy in most cases is due to the effect of a gene on

metabolic pathways which contribute towards different
phenotypes.
• Phenylketonuria is caused by mutation in the gene that
codes for the enzyme phenyl alanine hydroxylase (single gene
mutation).
• This gene controls the phenotypic expression characterised
by mental retardation, reduction in hair and skin pigmentation.
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SEX DETERMINATION
• The chromosomes that are involved in sex determination are
called sex Chromosome or allosomes.
• They include X & Y chromosomes
• Autosomes are chromosomes other than sex chromosomes
• Number of autosomes is same in male and females.

Henking in 1891 discovered X-chromosomes

XX-XO Mechanism Eg: grass hopper

• In many insects and round worms xx-xo sex determining
mechanism is seen.
• Here females produce one type of egg with one x
chromosome
• While males produce two types of sperms- one with x-
chromosome and the other without an x- chromosome. Fusion
of x-sperm with x-egg produces females (xx) and fusion of o-
sperm with x-egg produces a male (xo)
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XX-XY Mechanism Eg : mammals and drosophila

• The chromosome pattern in female is XX and that in the male is
XY.
• Females are homo gametic with only X chromosomes and males
are hetero gametic and produce gametes with either X or Y
chromosomes .
• The XY zygote will be formed if the Y chromosome carrying
male gamete fuses with the X gamete of female, and the child
thus formed is male .
• Female child will born from XX zygote if the X gamete of
female fuses with the X gamete of male .
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ZZ-ZW mechanism Eg: Birds

• This type sex determination is mainly seen in birds.
• Here females are heterogametic. They produce two types of
eggs; one with Z – chromosome and the other with W –
chromosome.
• Males are homogametic and produce sperms with only Z-
chromosomes.
• Fusion of Z-sperm with Z-egg produce ZZ- males and the
fusion of Z-sperm with W-egg produces a ZW- female.
• Thus in birds the egg is responsible for the sex of the
chicks.
 BTL’S Biology Classes

Sex Determination in Honey Bee

Haplodiploid sex-determination

• In hone bee, males have half the number of chromosomes

than that of a female.
• The females are diploid having 32 chromosomes and
males are haploid, having 16 chromosomes.
• This is called as Haplodiploid sex-determination
system and has special characteristic features such as the
males produce sperms by mitosis.
• Males do not have father and thus cannot have sons, but
have a grandfather and can have grandsons.
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PRINCIPLES OF INHERITANCE AND VARIATION

PART 7

MUTATION
Mutation is a phenomenon which results in alteration of DNA sequences and
changes in the genotype and the phenotype of an organism.

• Mutation leads to variation in DNA

• Loss (deletions) or gain (insertion/duplication) of a segment of DNA,
result in alteration in chromosomes.
• Alteration in chromosomes results in abnormalities or aberrations.

Pedigree Analysis
Pedigree Analysis
Analysing the inheritance of the character through several previous
generations in a family is known as pedigree analysis.
• In the pedigree analysis the inheritance of a particular trait is
represented in the family tree over generations.
• pedigree study provides a strong tool, which is utilised to trace the
inheritance of a specific trait, abnormality or disease.
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PRINCIPLES OF INHERITANCE AND VARIATION

PART 8

GENETIC DISORDERS

Colour Blindness
• It is a sex-linked recessive disorder due to the mutation of genes
present in X chromosome.(X-linked disease)
• Colour blind persons fails to discriminate between red and green
colour due to the defect in either red or green cone of eye.
• Males have only one X chromosome and females have two.
• So It occurs in about 8 per cent of males and only about 0.4 per
cent of females.
 TLB’S Biology Classes

Father and mother are not colour-blind but mother is carrier.

What is the possibility of their children to be colour blind?

• The gene for colour blindness is located in the x-chromosome of

mother.
• The mother is not herself colour blind because the gene is
recessive.
• The son of a woman who carries the gene has a 50 per cent chance
of being colour blind.
• 50 per cent chance for normal daughters and carrier daughters.
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What is the possibility of a female to be colour blind?

• .Ifa colour blind man marries a carrier woman 50 per cent chance for colour
blind daughter and carrier daughter.
• A daughter will not normally be colour blind, unless her mother is a carrier
and her father is colour blind.
• 50 per cent chance for colour blind son and normal son.

Haemophilia
• It is a sex-linked recessive disorder due to the mutation of genes present in X
chromosome (X-linked disease)
• The affected person may die due to minor injuries because of excessive
bleeding.
• The genes responsible for haemophilia are located on the X-chromosomes.
• The Y-chromosome carries no genes for this trait.
 TLB’S Biology Classes

The possibility of a female becoming a haemophilic is extremely rare because

mother of such a female has to be at least carrier and the father should be
haemophilic. (unviable in the later stage of life).
The family pedigree of Queen Victoria shows a number of
haemophilic descendants and she was a carrier of the disease.
 PRINCIPLES OF INHERITANCE AND VARIATION
PART 9

Sickle-cell anaemia
• Sickle cell anaemia is an autosome linked recessive trait.
• The gene for Sickle cell anaemia occurs in chromosome 11.
• 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 disease is controlled by a single pair of allele, HbA and HbS .
• Homozygous individuals for HbS (HbSand HbS ) show the diseased
phenotype.
• Heterozygous (HbA and HbS ) individuals are carrier of the disease.
• The mutant haemoglobin molecule undergoes polymerisation under low
oxygen tension causing the change in the shape of the RBC from
biconcave disc to elongated sickle like.

Phenylketonuria
• This is an inborn error of metabolism.
• It is inherited as the autosomal recessive trait.
• The affected individual lacks an enzyme that converts the amino acid phenylalanine
into tyrosine.
• As a result of this phenylalanine is accumulated and converted into
phenylpyruvic acid and other derivatives.
• Accumulation of these in brain results in mental retardation.
• These are also excreted through urine because of its poor absorption by kidney.
Thalassemia
• This is an autosome-linked recessive blood disease.
• It is transmitted from parents to the offspring when both the partners
are unaffected carrier for the gene (or heterozygous).
• The defect could be due to mutation or deletion .
• It results in reduced rate of synthesis of one of the globin chains
(α and β chains) that make up haemoglobin.
• This causes the formation of abnormal haemoglobin molecules
resulting into anaemia.
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PRINCIPLES OF INHERITANCE AND VARIATION

PART 10

Chromosomal Disorders

• The chromosomal disorders are caused due to absence or excess

or abnormal arrangement of one or more chromosomes.
• Failure of segregation of chromatids during cell division cycle
results in the gain or loss of a chromosome(s),
• called aneuploidy.

Polyploidy.
Failure of cytokinesis after telophase stage of cell division results in an
increase in a whole set of chromosomes in an organism and, this
phenomenon is known as polyploidy.
This condition is often seen in plants.

Down’s Syndrome
This disorder was first described by Langdon Down (1866)
The cause of this genetic disorder is the presence of an additional copy of
the chromosome number 21.
 TLB’S Biology Classes

The affected individual is

• short statured with small round head,
• furrowed tongue and partially open mouth
• Palm is broad with characteristic palm crease.
• Physical, psychomotor and mental development is retarded

Klinefelter’s Syndrome
• This genetic disorder is caused due to the presence of an
additional copy of X-chromosome resulting into a karyotype of 47, XXY.
• Such an individual has overall masculine development, however, the
feminine development (development of breast, i.e., Gynaecomastia) is
also express.
• Such individuals are sterile.

TURNER’S SYNDROME
• Turner’s Syndrome is caused due to the absence of one of the X
chromosomes, i.e., 45 with X0.
• Such females are sterile with rudimentary ovaries
• They lack of other secondary sexual characters.
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