Chapter 22 Variation and Genetics

GENES, ALLELES AND GENE POOL

Gene
Gene is the basic unit of biological information.
These are actually parts of DNA comprising its base sequence.
Properties of a gene
(i) The position of a gene on the chromosome is called its locus.
(ii) Hereditary characteristics pass from parents to offspring through genes
in their gametes.
(iii) Genes are responsible for producing startling inherited resemblances
as well distinctive variations among generations.
(iv) The genes are passed to the next generations as intact parental combination between
generations.
(v) Some times, variations are produced due to shuffling, mutation or juggling in gene.
(vi) They form pairs on pairs of homologous chromosomes.
(vii) One member of a gene pair is located on one homologue and the other member on other
homologue.
Allele
Partners of a gene pair are called alleles.
Properties of Allele
(i) Each allele of a gene pair occupies the same gene locus on its respective homologue.
(ii) Both alleles on one locus, may be identical or different from each other.
Phenotype and Genotype
Definitions
(i) Phenotype is the form of appearance of a trait.
(ii) Genotype is the genetic complement of an individual for a particular trait.
Example
A flower may be red or white in colour. Flower colour is trait and red and white are its two
phenotypes. Red is represented by 'R' and white by 'r'. Their combination will be genotype.
Population
Any group of interbreeding organisms of the same species that exist together in time and space is
called a population.
Gene Pool
All the genes/alleles found in a breeding population (group of sexually interbreeding organism of
same species that exist together in both time and space) at a given time are collectively called the
gene pool. It is the total genetic information encoded in the total genes in a breeding population
existing at a given time.
Beanbag Genetics
If we imagine population not as a group of individuals, but as a group of individually segregating and
randomly assorting alleles, we can understand the concept of "beanbag genetics"
The alleles are like beans in a beanbag. The entire beanbag full of beans is the gene pool of the
population.
In the beanbag approach, we can imagine the entire gene pool comprising all the alleles for all the
different traits at once, or we can just focus on some subset, such as all the alleles for a single trait.
For convenience, we can focus on the gene pool for a single particular trait.
Example
A sample population of 100 diploid plants, some of which bear red flowers, others bearing white
flowers has a sum total of 200 of all the different alleles (R or r) for flower colour trait as its gene pool.
Jumping genes
Jumping genes do not settle peacefully on their loci, they keep on hopping on different loci on the
same chromosome or different chromosomes.
Example
The reddish lines on the corn grains are caused by jumping genes.
MENDEL’S LAWS OF INHERITANCE
Introduction
Gregor Johann Mendel (1822-1884) laid the foundation of classical genetics by formulating two laws
of heredity (law of segregation & law of independent assortment).
He was a priest. He performed series of experiments on garden pea (Pisum sativum) in his
monastery garden for eleven years (1854-1865).
Reasons for Selection of Pea Plant
Mendel selected Pisum sativum for his experiment due to following reasons
i) It is easy to cultivate and grows well in garden.
ii) Its flowers are hermaphrodite and self-fertilizes but can also be cross-fertilized.
iii) Time gap between generations is very short so many generations can be grown in short period of
time.
iv) It has sharply distinct traits. Each trait has two clear cut alternative forms or varieties.
Contrasting Pair of Traits

Mendel's Law Of Segregation Of Genes

STATEMENT
According to Mendel's Law of Segregation
“The two coexisting alleles for each trait in an individual segregate (separate) from each other at
meiosis, so that each gamete receives only one of the two alleles. Alleles unite again at random
fertilization of gametes when zygote is formed.”
EXPLANATION
Mendel first established true-breeding lines or varieties for each trait.
True breeding variety
A true breeding variety upon self-fertilization always produces offspring identical to the parents.
Example
For example a true-breeding round seed plant produces only round seeds. Similarly, a true breeding
wrinkled seed plant produces only wrinkled seeds.
Monohybrid cross
Mendel studied one trait at time to develop law of segregation. Such a cross in which only one trait is
studied at a time is called monohybrid cross.
Phenotypic Expression
Different steps performed by Mendel to develop Law of Segregation are described in sequence as
following:
F1 Cross
He cross-fertilized a true breeding round seed male plant with a true
breeding wrinkled seed female plant. He called it first parental
generation (P1). Their offspring were called F1 or first filial
generation. All F1 offspring were round like one of the parent.
Round dominated wrinkled. Its dominance was complete
because no offspring intermediate between parents was
found. He called the trait that appeared in F1 as dominant
while the trait, which was masked as recessive.
F2 Cross
Mendel allowed self-fertilization among F1 monohybrids to raise F2
progeny. After this monohybrid cross, ¾ of F2 were round and 1/4
wrinkled. Mendel got 3:1 ratio for all seven contrasting pairs of traits.
F3 Cross
He self-fertilized F2 plants to raise F3. He noted that 1/3 of F2 round produced only round, while
2/3 of F2 round produced both round and wrinkled in 3:1 ratio but F2 wrinkled produced only
wrinkled. He concluded that 1/3of F2 rounds were true-breeding like P1 round and 2/3 of F2 round
were monohybrid like F1 round.
Mendel's Interpretations
Mendel proposed
• Each contrasting form of a trait e.g. roundness or wrinkledness of seed was determined by
particulate hereditary factors, which he called 'elementen'.
• These factors carrying hereditary information were transmitted from parents to offspring through
gametes.
• Each pea plant had a pair of these factors, one derived from male parent and other from female
parent. Both of these factors controlled expression of a trait.
Genetic Expression
Mendel designated dominant factor with a capital-letter and recessive factor with a-small letter e.g. 'R'
for roundness factor and 'r' for wrinkledness factor.
Johansen renamed them as 'gene'.
Homozygous
When both the alleles of a gene pair in an organism are same, the organism is homozygous for that
gene pair. An individual with a homozygous genotype is a homozygote.
The true-breeding round seed plant of P1 generation carried 'RR' alleles while true-breeding wrinkled
seed plant of P1 carried 'rr' alleles.
Heterozygous
When two alleles of a gene pair are different then it is called heterozygous and such an individual with
a heterozygous genotype is called heterozygote.
Mendel inferred that each factor got separated from pair so that a gamete received only one member.
When male gamete carrying factor (R) fertilized female gamete with factor (r), the complete set of the
two factors (Rr) for the trait was restored in zygote. The zygote developed into F1 offspring that was
heterozygous 'Rr'.
F1 offspring (Rr) was round in phenotype but heterozygous in genotype. Its alleles also segregated
during gamete formation.
Punnett square
Punnett square indicates that 1/4 of F2 progeny would have been 'RR' (homozygous round), 2/4 'Rr'
(heterozygous round) and 1/4 'rr' (wrinkled).

Conclusion
All these results support Mendel's Law of Segregation i.e.
• Alleles are present in form of pairs in an individual.
• Alleles separate during gamete formation from one another.
• Each gamete receives only one member of the pair.
• Actual number is restored after fertilization when gametes fuse to form zygote.
Further
• Phenotype ratio of Mendel's law of segregation is 3:1 ratio.
Genotype ratio of Mendel's law of segregation is [Link].
Test Cross
Test cross is a mating in which an individual showing a dominant phenotype is crossed with an
individual showing a recessive phenotype.
Importance
It is used to find genotype (homozygosity or heterozygosity) of phenotypically dominant parent.
Explanation
This cross was used by Mendel to find genotype of individual.
A phenotypically round seed could be homozygous (RR) or heterozygous (Rr).
If phenotypically round seed plant is crossed with homozygous recessive and
• All progeny is of round seed then tested phenotypically dominant individual is heterozygous.
• 1/2 round seed and 1/2 wrinkled seed progeny then tested phenotypically dominant individual is
heterozygous.
Case I Case II
If the seed is homozygous round (RR) it will grow If the seed is heterozygous round (Rr), it will grow
into a pea plant that forms all gametes with only into a plant that forms half the gametes with 'R'
'R' allele. Wrinkled seed plant is always and half with 'r' allele. Wrinkled seed plant will
homozygous recessive. form only 'r' type of gametes. Fertilization will
It will form all gametes with 'r' allele. Fertilization result into 50% round and 50% wrinkled seed
will result in 100% round seed progeny. progeny. Even a single wrinkled seed in the
progeny is a convincing· proof for heterozygous
nature of the round parent.

Result Result
All round seed progeny. ½ round seed and
The tested phenotypically ½ wrinkled seed progeny.
Individual is homozygous. The tested phenotypically dominant individual is
heterozygous.

Mende’s Law Of Independent Assortment

Statement
According to Mendel's law of independent assortment
"When two contrasting pairs of traits are followed in the same cross, their alleles assort independently
into gametes."
Proof of Law of Independent Assortment by Dihybrid Cross
During these experiments, Mendel decided to study the inheritance of two traits simultaneously.
F1 cross
• He crossed true-breeding round and yellow seed plants with true-breeding wrinkled and green seed
plants. All the F1 dihybrids were round yellow seeded due to dominance.
F2 cross
• Then he made a dihybrid cross by allowing self-fertilization among F1 dihybrids. In F2 along with
two parental combinations (round yellow and wrinkled green), two new phenotypic combinations
(round green and wrinkled yellow) were also found. A clear cut [Link] phenotypic ratio was found in
F2.
Conclusion
From appearance of these new recombinant phenotypes of F2, Mendel inferred that
• Some sort of reshuffling of alleles had occurred during gamete formation.
• He called this mechanism as independent assortment of alleles.
• He concluded that the alleles for seed shape and colour were not bound to remain in parental
combinations forever i.e. 'R' with 'Y' and 'r' with 'y' rather these were free to assort independently.
• The distribution of alleles of one trait into gametes has no influence on the distribution of alleles of
the other trait. Thus the chance for a plant to be round or wrinkled is independent of its chance of
being yellow or green.

USE OF PROBABILITY FOR PROOVING THE LAW

Probability is chance of an event to occur.
Two independent events occur during law of independent assortment.
(i) In F2 offspring of a monohybrid cross the independent chance for a seed to be round is 3/4 or it to
be wrinkled is 1/4.
(ii) Inheritance of seed colour is another separate event. The independent chance in F2 of a
monohybrid cross for a seed to be yellow is 3/4 or it to be green is 1/4.
Product rule
When two independent events are occurring simultaneously like in dihybrid cross, the ratio of each
joint phenotypic combination can be obtained by multiplying the probabilities of individual phenotypes.
It is called product rule. The product rule state that,
The joint probability that both of the independent events will occur simultaneously is equal to
the product of individual probabilities of each event.

Limitation of Law of Independent Assortment

Independent assortment of genes depends upon independent assortment of their chromosome. All
the genes present on a homologous pair of chromosomes are linked to each other in the form of a
linkage group. These cannot assort independently.
Only those contrasting pairs of traits can assort independently whose alleles are riding on non-
homologous chromosomes.
Pea has seven homologous pairs of chromosomes. The allelic pair for each of the seven characters
studied by Mendel were luckily on different homologous pair of chromosomes. If he had studied an
eighth character, its alleles would have been linked to alleles of another trait on the same
homologous pair and could have never assorted independently.
Rediscovery of Mendel's Work
Mendel presented his findings to Brunn Society for the study of Natural Sciences in 1865. His work
was neglected for 34 years. In 1900, three botanist; Correns, De Varies and Tschermach
independently rediscovered and acknowledges his work.
DOMINANCE RELATIONS
Dominance is a physiological effect of an allele over its partner allele on the same gene locus.
TYPES
There are four types of dominance relations among alleles. Each relation shows a different style of
functional effect on each other.
1. Complete dominance
2. Incomplete dominance
3. Codominance
4. Over dominance
Complete Dominance
Definition
When one allele is completely dominant over the other and heterozygote shows effect of only one
homozygote then it is called complete dominance.
Example
All the seven contrasting pairs of traits chosen by Mendel are examples of complete dominance.
Incomplete Dominance
Definition
When the phenotype of the heterozygote is intermediate between phenotypes of the two
homozygotes, it is called incomplete or partial dominance.
It was first described by Carl Correns in 1899 by working on a flowering plant named 4 O' clock.
Features
• There is no true dominant allele, the usual capital and small letter distinction for dominant and
recessive is not used.
• Both the alleles are represented by same letter but are numbered differently.
• Phenotype ratio is the same as the genotype ratio so there is no need of test cross.
Example
Cross-I When a true breeding red flowered 4 O' clock plant was crossed with a true breeding white
flowered plant, in F1 hybrids, all had pink flowers having a shade intermediate between those of the
parents due to an intermediate amount of pigment in petals.
Cross -II When Correns self-fertilized F1 pink, the F2 showed all three phenotypes of flowers in the
ratio of 1 red 2 pink 1 white.
Application of Mendel’s law on incomplete dominance
There is blending of flower colour in F1. It is against the law of segregation of Mendel. But red and
white flowers reappear in F2. It indicates that blending does not occur at genetic level .
Codominance
Definition
Such type of dominance in which both the alleles express independently in heterozygote is called
codominance and such alleles are called codominant alleles.
Example
MN blood group is the most suitable example of codominance as discussed below.
MN BLOOD GROUP SYSTEM
Discovery
MN blood types in man were discovered by Landsteiner and Levine on the basis of specific antigens
present on RBC.
Blood Types
There are three general phenotypes i.e. M, N and MN.
• M phenotype has antigen M that is produced by gene LM.
• N phenotype has antigen N that is produced by allele L N.
• MN phenotype has both M and N antigen, simultaneously produced by their alleles LM and LN.

Over Dominance
Definition
Such type of dominance in which phenotype of heterozygote exceeds over phenotypic expression of
both the homozygotes is called over dominance.
Example
In fruit fly Drosophila, the heterozygote (w+/w) has more quantity of fluorescent pigments in eyes than
wild red eye (w+/w+) or white eye (w/w) homozygotes.
MULTIPLE ALLELES
Definition
All such altered alternate forms of a gene, whose number is more than two, are called multiple alleles.
Features
i) Gene mutations may produce many different alleles of a gene.
ii) Some gene may have as many as 300 alleles.
iii) Any two of these multiple alleles can be present in the genome of a diploid organism.
iv) A haploid organism or a gamete can have just one of them in its genome.
Example
The ABO blood group system and Rh blood group system in man are the most suitable examples of
the multiple alleles.
The First Discovered Multiple Allelic Blood Group System in Man
Discovery
ABO blood group system was first discovered by Karl Landsteiner in 1901.
Phenotypes of ABO system
ABO system has four different phenotypes, which are distinct from each other on the basis of specific
antigen on the surface of RBC.
(i) Blood group A It has antigen A.
(ii) Blood group B It has antigen B.
(iii) Blood group AB It has both antigens A and B.
(iv) Blood group O It has neither antigen A nor B.
Genetics of ABO system
Bernstein explained the genetic basis of ABO system in 1925.
ABO blood group system is encoded by a single polymorphic (with many forms) gene I on
chromosome 9. It has three multiple alleles IA, IB and i.
Antigens in the blood
(i) Allele IA specifies production of antigen A.
(ii) Allele IB specifies production of antigen B.
(iii) Allele i does not specify any antigen.
Dominance Relations
Following are dominance relations
i) Alleles IA and IB are condominant to each other. So they are expressed equally in IAIB heterozygote
to produce AB phenotype.
ii) Allele i is recessive to both IA and IB.
iii) Therefore, IAIA or IA i genotypes will produce phenotype A.
iv) Similarly IBIB or IB i produces phenotype B.
v) The homozygous or IB IB produces phenotype B.
vi) The homozygous ii will produce phenotype O.
Expression of blood group alleles
Blood group alleles start their expression at early embryonic stage and keep on expressing
themselves till death. Therefore the blood group phenotype of a person never changes throughout
life.
Antibodies of blood groups
Anti-A and Anti-B antibodies appear in plasma during the first few months after birth. They are
naturally occurring in the absence of corresponding antigen.
The blood serum containing antibodies is called antiserum.
1. The blood serum of A phenotype contains anti-B antibodies.
2. The blood serum of B phenotype contains anti-A antibodies.
3. The blood serum of AB phenotype has neither anti-A nor anti-B antibodies.
4. The blood serum of a phenotype contains both anti-A and anti-B antibodies.
Importance
1) Blood Transfusion
• Blood group A can be transfused only into A and AB recipients because they do not have anti-A
antibodies.
• Blood group B can be transferred only into B and AB recipients as they do not have anti-B
antibodies.
• Blood group AB can be transfused only into AB recipients because they have neither anti-A nor anti-
B antibodies.
• Blood group 0 can be transfused into all other phenotypes.
Donor's antibodies, are quickly absorbed by other tissues or greatly diluted in recipient's blood.
Universal donors
• O blood group individuals are called universal donors.
Universal recipients
• AB blood group individuals are called universal recipients.
The blood samples of donor and the recipient are cross-matched for compatibility before giving
transfusion. If incompatible blood is transfused, then it may cause;
i) Agglutination
It leads to serious results because clumped cells cannot pass through fine capillaries.
ii) Hemolysis
In it either the antibodies of the recipient destroy the RBC of donor or the antibodies of the donor
hemolyze the RBC of the recipient.
2) Establishing parentage
Genetic analysis of blood groups helps in solving cases of disputed parentage but does not provide
sufficient evidence. It can only be used to prove that an individual is not the parent of a particular child
e.g.
i) A child with phenotype AB cannot be child of a parent of phenotype O.
ii) A man of B phenotype cannot be father of a blood type child whose mother is of phenotype O. His
father could either be A or AB phenotype.
Rh Blood Group System
Introduction
ABO blood type is further differentiated by a + or - sign. This positive or negative sign refers to the
presence or absence of another blood group system antigen called Rh factor.
Rh Blood group system is defined on the basis of Rh factor present on the surface of RBC. This
system is named after Rhesus monkey, because its antigen was first discovered in it by Landsteiner
in 1930s.
Genetics of Rh System
It is encoded by three genes C, D and E. They occupy two tightly linked loci. Alleles of gene D occupy
one locus called locus D while genes C and E alternatively occupy the other locus. The D locus is of
prime importance.
Gene D has two alleles i.e. D and d. D is completely dominant over d.
Phenotypes of Rh System
• Persons having genotype DD or Dd have Rh factor on their RBC and are Rh+.
• Persons with genotype dd do not have Rh factor and are Rh-.
Antibodies of Rh System
Antibodies are not present either in Rh+ or Rh- persons. Anti-Rh antibody production requires a
stimulus by the human Rh antigen itself.
An Rh- person does not produce anti-Rh antibodies unless he is exposed to Rh antigen.
Role of Rh factor in Blood Transfusion
Transfusion of Rh+
Rh+ donor is totally incompatible for Rh- recipient. If an Rh- person receives Rh antigen through
wrong Rh+ blood transfusion, he will begin to produce anti-Rh antibodies against Rh antigens.
Transfusion of Rh-
Rh- blood, clear of any anti - Rh antibody from a donor who has never been exposed to Rh anti en
can be transfused to Rh+ recipient.
Erythroblastosis Foetalis (Maternal-Foetal Rh Incompatibility)
Introduction
It results when an Rh- woman, married to an Rh+ man, conceives a child who is Rh+.
Chances
• If the man's genotype is DD, all of their offsprings (Dd) will be Rh+.
• If the man's genotype is Dd, half of their offspring with Dd genotype will be Rh+.
Mechanism
Different steps involved are
i) RBC of Rh+ foetus cross the placental barrier and enter into Rh- mother's blood stream, the
mother's immune system reacts to the foetal Rh antigen stimulus by producing a large number of anti-
Rh antibodies.
ii) Mother's anti-Rh antibodies seep through placenta into blood circulation of foetus, they start
hemolysis of foetus.
iii) Due to destruction of RBC, foetus becomes anemic.
iv) Anemic foetus starts to release many immature erythroblast into his blood stream. That is why this
disease is called erythroblastosis foetalis.
v) Anemia may lead to abortion or still birth.
vi) If pregnancy continues, the liver and spleen of the foetus swell as they rapidly produce RBC.
vii)The breakdown product of RBC called bilirubin also accumulates in foetus. It damages his brain
cells and turns his skin and whites of eye yellow. This condition is called jaundice. If such baby is
born alive, it may suffer from severe hemolytic anemia and jaundice. Such baby's blood should be
immediately replaced by Rh- blood free of anti-Rh antibodies.
High Risk of Incompatibility after First Pregnancy
The first Rh incompatible pregnancy may not face much problems if very few of foetal antigens cross
placenta into maternal circulation and the amount of maternal antibody production is not very high.
But when placenta detaches at birth; a large number of foetal cells enter mother's blood stream and
stimulate production of large amount of anti - Rh antibodies by the mother.
These anti - Rh antibodies persist in mother's blood for a long time and are persistent risk for the next
Rh+ foetus.
Treatment
Rh sensitization of Rh- mother is avoided by a simple therapy. She is given an injection of Rh
antiserum during early pregnancy and immediately after birth. The Rh antibodies in the Rh antiserum
will destroy Rh + RBC of the foetus before they stimulate production of maternal anti - Rh antibodies.
The injected antiserum disappears before the next pregnancy.
Sometimes a mild ABO incompatibility protects the baby against a more severe Rh incompatibility. If
O mother conceives A+ or B+ baby, any foetal A or B type RBC entering the mother's blood are
quickly destroyed by her anti-A or anti-B antibodies, before she can form anti-Rh antibodies.

EPISTASIS
Definition
When an effect caused by a gene or gene pair at one locus interferes
with or hides the effect caused by another gene or gene pair at
another locus, such a phenomenon of gene interaction is called
epistasis.
Epistasis vs dominance
Epistasis must not be confused with dominance. Dominance is the
relationship between alleles of the same gene occupying the same
locus, but epistasis is the interaction between different genes
occupying different loci.
Example
Bombay phenotype is an example of epistasis.
Bombay Phenotype
Definition
Such a blood group phenotype which is different from genotype is
called Bombay phenotype.
Mechanism
The expression of ABO blood type antigens by IA or IB gene depends upon the presence of another
gene H.
(i) ABO locus is on chromosome 9.
(ii) H locus is on chromosome 19.
• H gene (dominant) changes a precursor substance into substance H.
• It produces an enzyme that inserts a sugar onto a precursor glycoprotein on the surface of RBC.
• Antigen A or antigen B is attached to this sugar of substance H.
The recessive allele h cannot insert sugar molecule to glycoprotein. Therefore, hh individuals lack the
site of attachment for antigen A or antigen B. Their RBC lack A and B antigens although they do not
lack IA and IB genes. They are phenotypically O but are not genotypically O.
PLEIOTROPY
Definition
When a single gene affects two or more traits, the phenomenon is called pleiotropy.
Such a gene with multiple phenotypic effects is called pleiotropic.
Examples
1. White eye gene in Drosophila also affects the shape of sperm storing organs (spermathecae).
2. Genes that affect growth rate in humans also influence both weight and height.
3. In cats, the dominant allele W not only makes fur pure white but also causes deafness. In ww
homozygous normal pigmented cats, melanocytes produce pigment of fur and also contribute to hair
cells in inner ear that sense sound.
When a cat gets W allele, its melanocytes fail to develop properly. Melanocyte failure causes change
in both phenotypes i.e. white fur and deafness.
CONTINUOUSLY VARYING TRAITS
Phenotypic Expression
Phenotypic expression of traits has two aspects i.e.
1. Qualitative
2. Quantitative

1. Qualitative Traits
Definition
Such traits that vary qualitatively are called qualitative traits.
Features
• Qualitative differences (variations) are large and more obvious.
• Mostly show discontinuous variations with two, three or four sharply distinct phenotypes.
• Their frequency diagram forms asymmetric distribution curve, with much greater frequency of
phenotypes at one end than at the other end.
• Mostly traits are controlled by single gene/gene pair or some multiple alleles.
Examples
• Mendelian traits of pea plant show two phenotypes Round or wrinkled.
• Flower colour in 4O' clock plant has three phenotypes Red, pink, and white.
• ABO blood group system has four phenotypes A, B, AB and O.
Tongue Rolling as Example
Some people can roll their tongue into a distinct U shape when they extend it out of their mouth.
They are called rollers. This ability is due to a single dominant gene.
2. Quantitative Traits (Continuously Varying Trait)
Such traits that vary quantitatively are called quantitative traits or continuously varying trait.
A continuously varying trait is encoded by alleles of two or more different gene pairs found at different
loci, all influencing the same trait in an additive way. These quantitative traits are called polygenic
traits and their genes are polygenes.
Features
• Quantitative differences are small and less striking.
• These traits are controlled by more than one pair of genes and show many phenotypes.
• Each polygene has a small positive or negative effect on the character. Polygenes supplement each
other and sum of positive and negative effects of all individual polygenes produce quantitative
phenotypes of a continuously varying trait.
• Frequency histogram of quantitative traits shows bell shaped curve in which maximum phenotypes
are present in the mid. The horizontal or X axis indicates the range of different phenotypes of a trait
while vertical or Y axis indicates the number of individuals or their percentage.
Examples
i) Wheat Grain Colour
Wheat grains vary in colour from white to dark.
Experiment of Nilsson-Ehle
Nilsson-Ehle studied the genetics of wheat grain colour.
When he crossed a true breeding dark red grain plant with a true breeding white grain plant, all Fl
grains had light red colour, intermediate between two parental shades. It seemed to be a case of
incomplete dominance.
But when Fl grains were grown to mature plants and crossed with each other, F2 grains had exactly
seven shades of colour in the ratio of:
Dark red: Moderately Dark Red: Red: Light Red: Pink: Light Pink: White
1 : 6 :15: 20 : 15 : 6 : 1
Genetics
Three different gene pairs (Aa, Bb, Cc) at different loci contribute to wheat grain colour.
• Alleles A, B and C code for an equal amount of red pigment, which is a positive effect.
• Alleles a, b and c do not produce red pigments and have a no (zero) dose negative effect.
Phenotypes In Relation To Genotypes
• If all the six alleles code for red pigment (AABBCC), the grain is dark red.
• When none of the six alleles encode red pigment (aabbcc), the grain is white.
• When a grain has one allele for red pigment (Aabbcc or aaBbcc or aabbCc), its colour is light pink.
• If it has two alleles for the pigment (AaBbcc or aaBbCc or AabbCc), it is pink.
• If it has three pigment alleles (AaBbCc or AABbcc or AabbCC), it will be light red.
• Four alleles colour dose (AABBcc or aaBBCC or AabbCC) will make red.
• Five alleles colour dose (AABBCc or AABbCC or AaBBCC) will produce moderately dark red grain.

Thus the colour phenotype of the grain is the sum of the individual effects of all the six alleles.
Environmental factors like light, water and nutrients also influence the amount of grain colour.
Environmental variations make the distribution of phenotypes more smooth and continuous.
ii) Human Skin Colour
It is also a quantitative trait which is controlled by three to six gene pairs. The greater the number of
pigment specifying genes; the darker the skin. A child can have darker or lighter skin than his parents.
iii) Human Height
It is a more complex polygenic trait. A few people are very tall or very short, but most individuals fall in
the average or mean value.
This trait is controlled by many pairs of genes at different loci. Even multiple alleles may be possible
at each locus.
More the number of alleles for shortness, the shorter the height will be. Similarly greater the number
of alleles for tallness, the taller the height will be:
Affect of Environment
Environment also has a strong influence on height, intelligence and skin colour in humans. Constant
exposure to sun darkens skin. Poor nutrition prevents achieving genetically determined height.
Healthy and encouraging social environment promotes intelligence.

Activity
Study continuous variations in height and discontinuous
variation in tongue rolling ability of man and record your
observations as histograms.
Solution
Frequency Histograms
A frequency histogram is a simple graph. It shows variations.
• The horizontal or X axis indicates the range of different phenotypes of a trait within a population.
• The vertical or Y axis indicates the number of individuals or their percentage in the population.
Frequency Histograms of Tongue Rolling
Some people extend their tongue out of their mouth and
roll it into U shape. They are called rollers. This character is due to a single dominant gene. It is a
discontinuous variation.
So it is inherited in simple Mendelian fashion. Its frequency diagram from asymmetric distribution
curve. This curve show much greater frequency of phenotypes at one end and then at the other end.
Frequency Histograms of Human Height
Human height is a continuously varying trait. A frequency diagram of heights of humans in a large
population shows that so many phenotypes are found in it. The categories of these, phenotypes
blends into one another. It forms a smooth bell shaped normal distribution curve.

GENE LINKAGE
Definition
Phenomenon of staying together of all the genes of a chromosome is called gene linkage.
Features
i) It is a physical relationship between genes.
ii) A chromosome carries its linked genes en bloc in the form of linkage group.
iii) The number of linkage groups corresponds to the number of homologous pairs of chromosomes.
Man has 23 linkage groups.
iv) Linked genes do not obey Mendel's law of independent assortment, because these cannot assort
independently during meiosis.
v) Gene linkage reduces the chances of genetic recombination and variations among offsprings.
Examples
• Genes for colour blindness, hemophilia, gout etc form one linkage group on human X chromosome.
• Genes for sickle cell anemia, leukemia and albinism make linkage group on human chromosome
11.
CROSSING OVER
Definition
Crossing Over is an exchange of segments between non-sister chromatids of homologous
chromosome during meiosis.
Importance
Crossing over reduces the chances of gene linkage.
Explanation
Consider one pair of homologous chromosome. The homologous chromosomes pair up lengthwise,
point to point and locus to locus. One homologous carries genes 'A' & 'B', the other homologue has 'a'
& 'b'. Crossing over occurs at 4 strand stage (tetrad) between non-sister chromatids with formation of
chiasma. Exchange of chromosome segments logically means exchange of DNA, i.e. genes or
alleles. Alleles recombine and after separation four types of gametes are formed.
• Two with parental combinations of linked genes i.e. AB and ab.
• Two with recombination of genes i.e. Ab and aB.
If crossing over does not occur, only two parental types of gametes are formed. Parental types of
gametes produce parental types of offsprings, while recombination gametes produce recombinant
types of offsprings.

Cross Over or Recombination Frequency

Definition
It is the proportion of recombinant types between two gene pairs as compared to the sum of all
combinations.
Formula

Calculation Of Recombination Frequency

The recombination frequencies between two linked genes can be calculated by backcrossing the
heterozygote to a homozygous double recessive.
Mapping of Gene
The recombination frequency is directly proportional to the distance between the linked gene loci.
Genes can be mapped on a chromosome on the basis of their recombination frequencies.
If 1 % of recombination frequency is equal to 1 unit map distance, the two' linked genes A and B with
a 20% recombination frequency must be 20 units apart.
Importance of Crossing Over
Crossing over produces genetic variations among offspring. Genetic variations lead to tremendous
variations in their traits. Variations provide raw material for evolution by letting them adapt
successfully to the changing environment.
SEX DETERMINATION
SEX CHROMOSOME & AUTOSOME
Sex Chromosomes
Such chromosomes which have genes for determination of sex are called sex chromosomes.
Autosomes
All chromosomes other than sex chromosomes are called autosomes.
Autosomes do not carry any sex determining gene.
Discovery
Sex chromosomes were first discovered by T. H. Morgan in Drosophila.
Examples
1) In Drosophila
In fruit fly, Drosophila melanogaster, there are four pairs of chromosomes. The chromosomes of the
three homologous pairs are similar in both of the sexes, but fourth pair is different.
• The female has two similar rod shaped X-chromosomes in the fourth pair.
• The male has one rod shaped X-chromosome but the other a morphologically different J-shaped Y-
chromosome in the fourth heteromorphic pair.

2) In Human
Humans have 46 chromosomes in the form of 23 pairs. 22 pairs are of autosomes and one pair is of
sex chromosome.
Autosome pairs are common in both the sexes.
• Woman has two similar X chromosome in her 23rd pair. Thus she is XX.
• A man has an X chromosome along with a much shorter Y chromosome in his 23rd pair. The 23rd
pair in man is heteromorphic. Thus he is XY.
SRY is the male determining gene. It is located at the tip of short arm of Y-chromosome. Its name
SRY stands for sex determining region of Y.

3) In Grasshopper
In some grasshoppers males and females have different number of chromosomes.
• The female has 24 chromosomes in the form of 11 pairs of autosomes and a pair of X
chromosomes. Thus female is XX.
• Male grasshopper has 23 chromosomes. He has 11 pairs of autosomes and only one X
chromosome. The other member for sex chromosome pair is entirely missing in male. Thus male is
XO.
4) In Ascaris incurva
Ascaris incurva (a round worm) has compound sex chromosomes.
• Female has 42 chromosomes in the form of 8 pairs of compound X along with 13 pairs of
autosomes (16 + 26).
• Its male has 35 chromosomes comprising 8X plus one Y along with 13 pairs of autosome (8 + 1 +
26).
Patterns of Sex Determination
a) Sex Determination In Animals
There is a wide variety of sex determining mechanisms but three patterns are more common.
1) XO-XX Type
Examples
This pattern of sex determination is found in grasshopper and Protenor bug.
Male
• Male is XO because it has only one X chromosomes. The other sex chromosome is missing entirely.
• Male is heterogametic because it forms two types of sperms; half the sperms have X chromosome
while the other half are without any sex chromosome. A gamete without any sex chromosome is
called nullo gamete.
Female
• Female is XX because it has two X chromosomes.
• It is homogametic as it forms only one type of eggs. Every egg carries an X chromosome
Sex Determining Gamete
Sex of the offspring depends on the kind of
sperm that fertilizes the egg.
• If an X-carrying sperm fertilizes the egg,
an XX female offspring is produced.
• If the nullo sperm fertilizes the egg, an XO
male offspring is produced.
Sex ratio
Sex ratio between male and female is 1 1.

2) XY-XX type
Examples
This pattern of sex determination is found in Drosophila, man and many other organisms.
Male
• Male is XY.
• Male being heterogametic produces two types of sex determining sperms. Half the sperms carry X-
chromosome and the other half carry Y-chromosome.
Female
• Female is XX.
• Female being homogametic produces only one type of eggs, each having an X-chromosome.
Sex Determining Gamete
Sex of the offspring is determined by the type of sperm.
• If an X-carrying sperm fertilizes the egg, the zygote will be XX and a female offspring is produced.
• If a Y-carrying sperm fertilizes the egg, the zygote will be XY and a male offspring will be produced.
Sex ratio
Sex ratio between male and female offspring is 1:1.
3) ZZ-ZW Type
Examples
This type of sex-determination pattern is common in birds, butterflies and moths.
Discovery
It was discovered by J. Seiler in 1914 in moth.
It is the reverse of XY -XX system.
Male
Male is homogametic (ZZ). All sperms are alike carrying a Z-chromosome.
Female
Female is heterogametic (ZW). Female produces two kinds of eggs Z and W in equal
proportions.
Sex Determining Gamete
It is the kind of egg that determines the sex of offsprings.
• When a Z carrying egg is fertilized by the sperm, a male offspring is produced.
• When a W carrying egg is fertilized by the sperm, a female offspring is produced.
Sex ratio
Sex Ratio is 1:1.

COMPARISO OF CHROMOSOMAL DETERMINATION OF SEX

BETWEEN DROSOPIDLA AND HUMANS
In drosophila, an X: A ratio of 1.00 or higher produces female whereas an X: A ratio of 0.5 or lower
produces males.
Sex Determination In Plants
Most of the plants are monoecious but some are dioecious (having plants of separate sexes) e.g.
Ginkgo.
In it, male plant produces flowers with only stamens and female plants produce flowers with only
carpels.
Mechanism of Sex Determination
• Some dioecious plants have a difference of sex chromosomes between the sexes. These have an
X-Y system. These plants typically exhibit an X chromosome-autosome
balance system for sex determination.
• Many other sex determining mechanism are also seen in dioecious
plants.
Work of Correns
Correns (1907) discovered that pollens of certain plants were sex
determining. All eggs are of one type. Pollens of the two types are
produced in equal number. One kind of pollen after fertilizing the egg
produces male plant whereas the other kind of pollen after fertilization produces female plant.
Sex Determination In Eukaryotic microorganisms
Yeast and other eukaryotic microorganisms do not have sex chromosome. These depend on genic
system for determination of sex. In this system the sexes are specified by simple allelic differences at
a small number of gene loci e.g. a and alpha are the two mating types (sexes) of yeast, controlled by
MAT a and MAT alpha alleles respectively.
Sex Linkage
Sex Linkage in Drosophila
Thomas Hunt Morgan (1910) provided experimental evidence in support of chromosomal theory of
heredity through discovery of sex linkage in fruit fly Drosophila.
Reasons for Selection of Drosophila
Drosophila is a very useful organism for genetic studies for many reasons.
i) Easy collection & culturing
The tiny fly is found hovering around rotten fruits. It can be easily collected and cultured on mashed
bananas and other fruits. It does not need large spacious cages and lives happily in ordinary glass
bottle of jams and marmalades. It eats yeast that grows on mashed banana.
ii) Sexual dimorphism
Male and female Drosophila show sexual dimorphism i.e. these are morphologically distinct from
each other.
• Male is smaller in size with black rounded abdomen.
• Female is larger with pointed abdomen. It has sex combs on front legs.
iii) Short generation time
It has generation time of just two weeks. It lays a large number of eggs, which hatch out into fertile
offspring. Many generations can be raised in a relatively short time.
iv) Excellent for genetic studies
It is perfectly suited for genetic studies.
• It shows a large number of contrasting traits. Morgan and his colleagues studied about 85 traits.
• Its larvae are excellent material for dissection for chromosome study.
• It has only eight chromosomes. Salivary gland cells have giant chromosomes in their nuclei.
These have banding pattern corresponding to genes.
v) Part of human genome project
The entire genome of Drosophila has been successfully sequenced as part of human genome
project.
Morgan's Experiments & Crosses
Morgan raised cultures of Drosophila flies to study different traits, such as colour of the eye. Normal
fruit flies, the wild type, have bright red eyes. One of his coworkers Calvin Bridges, observed an
unusual white eye mutant male fly.

Step 1 Normal Cross

Morgan mated white eyed male with a wild type red eyed female. All 1237 offspring of this cross had
red eyes.
Morgan concluded that red eye is dominant trait.
Step 2 Normal Cross
Morgan allowed males and females of F1 generation to mate and produce F2 generation. He counted
2459 red-eyed females, 1011 red eyed males and 782 white eye males among F2.
Observations
Different observations got by this cross were;
• Offspring produced due to this cross were red-eyed females, red-eyed males and white-eyed males.
• The proportion of 3470 red eyed to 782 white eyed flies did not perfectly fit into Mendelian 3:1 ratio.
• The number of recessive phenotype individuals was too small.
• All the white-eye flies were only males. There was no white eye female in F2.
Conclusion
The inheritance of eye colour seemed to be related to the sex of offspring. Morgan proposed that
i) The gene for eye colour is located on X chromosome.
ii) The alleles for eye colour are present only on X chromosome. There is no corresponding allele for
this trait on Y chromosome.
iii) Single recessive allele on X chromosome can express itself in males because Y chromosome is
empty for that gene. Males are hemizygous as they carry just one allele on their only X chromosome.
Females have two X chromosomes, each carrying an allele of the trait. Females can be homozygous
or heterozygous.
Symbol 'w' represents recessive allele for white eye and 'w+' represents wild type allele for red eye.
Now we can relate these crosses with genotype.

Step 3 Test Cross

Morgan wanted to test his hypothesis.
He crossed the P1 white eyed male (Xwy) with one of its own daughters (the red-eyed heterozygous
female from F1).
Out of total offspring of this cross, half female offspring had red eyes and half had white. Similarly half
the males had red eyes and half had white.
Step4 Reciprocal Cross/ Confirmatory Test
Appearance of white-eyed female provided an opportunity for a further confirmatory test.
Morgan mated a white-eyed female with a red-eyed male. All female offspring had red eyes and all
male offspring had white eyes.
When F1 red-eyed females and white-eyed males were mated to produce F2, then half females had
red eyes and half white eyes. Similarly half males had red eyes and half white. This F1 x F1 cross
was exactly like step 3 test cross.

Different Traits of Organisms

1) X-Linked Trait
Definition
A trait whose gene is present on X-chromosome is called X-linked trait.
Sex linked traits
X-linked traits are commonly referred as sex-linked traits.

X linked gene
A gene present only on X chromosome, having no counterpart on Y chromosome, is called X-linked
gene.
Inheritance
• An X-linked trait passes in crisscross fashion from maternal grandfather (P1) through his daughter
(FI) to the grandson (F2).
• It never passes direct from father to son because a son inherits only Y chromosome from father.
2) Y-Linked Trait
Definition
Such a trait whose gene is present only on Y chromosome is called Y-linked traits.
Y linked genes
Such genes which are present only on Y chromosome are called Y -linked genes.
Example
Example is SRY gene on Y chromosome of man that determines maleness.
Inheritance
• Y-linked traits are found only in males.
• These traits directly pass through Y chromosome from father to son only. As females do not
normally inherit Y chromosome, such traits cannot pass to them.
3) x and Y Linked Trait
Definition
Such a trait whose genes are located both on X and Y chromosomes is called X and Y linked trait.
Pseudo autosomal genes
Such genes which are located both on X and Y chromosomes are called X- and Y-linked genes or
pseudo autosomal genes.
Inheritance
Their pattern of inheritance is like autosomal genes.
Example
Example is bobbed genes as in drosophila.
Sex Linkage in Humans
Different sex linked traits in humans are described here briefly. Mode of inheritance of human traits
can be traced through pedigree.
1) X-LINKED TRAITS
The pattern of X-linked traits are further divided into
A) X-linked recessive trait
B) X-linked dominant trait
A) X-Linked Recessive Trait
Definition
Such a trait that is determined by an X-linked recessive gene is called X-linked recessive trait.
Examples
(i) Haemophilia
(ii) Colour blindness
(iii) Testicular feminization syndrome .
(i) HAEMOPHILIA
Definition
It is a heredity disease in which patient's blood fails to clot properly after an injury.
Genetics of haemophilia
It is a rare X-linked recessive trait. It results due to either reduction or malfunction or complete
absence of blood clotting factors.
It is a serious heredity disease because a haemophilic may bleed to death even from minor cuts.
Types
It is of three types i.e. A, B and C.
1. Haemophilia A and B are non-allelic recessive sex-linked but haemophilia C is an autosomal
recessive trait.
2. 80% haemophilics suffer from haemophilia A due to abnormality of factor VIII, about 20% suffer
from haemophilia B due to disturbance of factor IX but less than 1 % suffer from haemophilia C due to
reduction of factor XI.
3. Haemophilia A and B affect men more than women (being X-linked) but haemophilia C affects both
the sexes equally (being autosomal).
Transfer of gene of haemophilia into the offsprings
Haemophilia A and B zigzag from maternal grandfather through a carrier daughter to grandson.
It never passes direct from father to son.
Allele for normal is 'H' and for haemophilia A is 'h'.
A woman can suffer from haemophilia A and B only when she is homozygous for the recessive allele
but a man with just one recessive allele will show the trait.

(ii) COLOUR BLINDNESS

Definition
It is a heredity disease in which person cannot differentiate between different colours.
Genetics
Normal trichromatic colour vision is based on three different kinds of cone cells in retina. Each cell is
sensitive to only one of the three primary colours i.e. red, green or blue.

Opsins
Each type of cone cell has specific light absorbing proteins called opsins. The genes for red and
green opsins are on X chromosome while the gene for blue opsin is present on autosome 7.
Types
Mutations in opsin genes cause three types of colour blindness.
a) Dichromacy
A dichromate can perceive two primary colours but is unable to perceive the one whose opsins are
missing due to mutation.
(i) Protanopia is red blindness.
(ii) Deuteranopia is green blindness.
(iii) Tritanopia is blue blindness.
b) Anomaly
Some people can detect red and green but with altered perception of the relative shades of these
colours. They have abnormal but still partially functional opsins.
• Protanomalous is abnormal perception for red.
• Deuteranomalous is abnormal perception for green.
c) Monochromacy
A monochromat can perceive only one colour. Monochromacy is true colour-blindness.
Red-Green Colour-Blindness
Blue cone monochromacy is an X-linked recessive trait in which both red and green cone cells are
absent. That is why it is also called red-green colour-blindness.
Inheritance
It is a common heredity disease. It also zigzags from maternal grandfather through a carrier daughter
to son. It is more common in men than women because chances for a male to be affected by it are
double than a female.
(iii) TESTICULAR FEMINIZATION SYNDROME
It is a rare X-linked recessive trait. Although the persons affected by this trait have a male set of XY
chromosome, yet tfm gene on their X chromosome develops them physically into females.
Sign and symptoms
They have breast, female genitalia, a blind vagina but no uterus. Degenerated testes are also present
in abdomen.
Androgen insensitivity syndrome
It is an androgen insensitivity syndrome. Male sex hormone testosterone has no effect on them.
B) X-Linked Dominant Trait
Definition
Such a trait that is determined by X-linked dominant gene is 'called X-linked dominant trait.
Genetics
Its pattern of inheritance is different from X-linked recessive. It is more common in females than
males.
All daughters of an affected father but none of his sons are affected. Any heterozygous affected
mother will pass the trait equally to half of her sons and half of her daughters.
Example
Hypophosphatemic rickets is an example.
Cause
It is a rare heredity disease. It does not result from vitamin D deficiency (as in dietary rickets) but its
cause is genetic communication failure at molecular level.

2) Y-LINKED TRAIT
Genetics
It passes through Y chromosome from father to son only. Such traits cannot pass to daughters
because they do not inherit Y chromosome. All sons of an affected father are affected by Y-linked
trait.

Example
Maleness is a Y-linked trait. 'SRY' gene on Y chromosome determines maleness in man. It is male
sex switch which triggers developmental process towards maleness after 6 weeks of pregnancy.
3) SEX LIMITED TRAIT
Definition
A sex limited trait is limited to only one sex due to anatomical differences:
Genetics
Such trait affects a structure or function of the body present in only males or only females.
These traits may be controlled by sex-linked or autosomal genes.
Example
• Genes for milk Yield in dairy cattle affects only cows.
• Beard growth in humans is limited to men. A woman does not grow a beard herself but she can
pass the genes specifying heavy beard growth to her sons.
4) SEX INFLUENCED TRAIT
Definition
Sex influenced trait occurs in both males and females but it is more common in one sex.
Genetics
It is controlled by an allele that is expressed as dominant in one sex but recessive in the other.
This difference in expression is due to hormonal difference between the sexes.
Example
Pattern baldness is an example. Many more men than women are bald. It is inherited as an
autosomal dominant trait in males but as an autosomal recessive trait in females.
A heterozygous male is bald but a heterozygous female is not. A woman can be bald only when she
is homozygous recessive.
DIABETES MELLITUS AND ITS GENETIC BASIS
Introduction
Diabetes mellitus is a hereditary disease.
It is actually a heterogeneous group of disorders which are characterized by elevated blood sugar
level. Diabetics are unable to metabolize blood sugar in their body. They pass glucose in their urine.
Complications
Diabetes is the leading cause of
 Kidney failure
 Adult blindness
 Lower limb amputation
 Heart diseases.
Types
There are two major types of diabetes
A) Type I
B) Type II
A) Type I
Introduction
• It is also called insulin dependent diabetes mellitus (IDDM).
• It is also called Juvenile diabetes because it usually occurs in early age before 40.
• It arises due to deficiency of pancreatic insulin.
Causes of IDDM
It is an autoimmune disorder. The immune system backfires and manufactures auto antibodies
against body's own cells. Sometimes, specific viral infections activate autoimmune response. T-cells
of immune system attack pancreas and destroy insulin producing β-cells.
Treatment
Diabetics of type I must receive exogenous insulin to survive.
Genetics
The insulin gene is located on short arm of chromosome 11. Polymorphism and genetic variations
within this locus are responsible for diabetes type I susceptibility. It is recessive single gene
multifactorial trait whose inheritance is associated with several alleles.
B) Type II
Introduction
• It is also called non-insulin dependent diabetes mellitus (NIDDM).
• It accounts for 90% of all diabetic patients.
• It occurs among people over the age of 40 and is more common among obese.
Causes of NIDDM
These persons produce some endogenous insulin themselves but their body cells gradually fail to
respond to insulin and cannot take up glucose from blood. They develop a sort of insulin resistance.
Obesity increases insulin resistance
Treatment
As exercise reduces obesity, it indirectly increases insulin sensitivity and improves glucose tolerance.
MODY
About 2-5% of type II diabetics get the disease early in life before 25 years of age. It is called maturity
onset diabetes of the young (MODY).
Genetics
MODY can be inherited as an autosomal dominant trait.
Cause
• About 50% cases of MODY are caused by mutations in glucokinase gene. Glucokinase enzyme
usually converts glucose to glucose-6-phosphate in pancreas.
• MODY can also be caused by mutations in any of the four other genes which encode transcription
factors involved in pancreatic development and insulin regulation. But these four MODY genes do not
play any significant role in adult onset type II.