Introduction to Genetics

MENDELS LAWS
The laws of inheritance were derived by Gregor Mendel, a 19th century monk
conducting hybridization experiments in garden peas (Pisum sativum). Between 1856
and 1863, he cultivated and tested some 29,000 pea plants. From these experiments he
deduced two generalizations which later became known as Mendel's Laws of Heredity
or Mendelian inheritance. He described these laws in a two part paper, "Experiments on
Plant Hybridization" that he read to the Natural History Society of Bruno on February 8
and March 8, 1865, and which was published in 1866.
Between 1856-1863, Mendel conducted the hybridization experiments on the garden
peas. During that period, he chose some distinct characteristics of the peas and
conducted some cross-pollination/ artificial pollination on the pea lines that showed
stable trait inheritance and underwent continuous self-pollination. Such pea lines are
called true-breeding pea lines.
He selected a pea plant for his experiments for the following reasons:

1. The pea plant can be easily grown and maintained.

2. They are naturally self-pollinating but can also be cross-pollinated.
3. It is an annual plant, therefore, many generations can be studied within a short
period of time.
4. It has several contrasting characters.

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Mendel discovered that by crossing white flower and purple flower plants, the result was
not a hybrid offspring. Rather than being a mix of the two, the offspring was purple
flowered. He then conceived the idea of heredity units, which he called "factors", one
which is a recessive characteristic and the other dominant. Mendel said that factors, later
called genes, normally occur in pairs in ordinary body cells, yet segregate during the
formation of sex cells. Each member of the pair becomes part of the separate sex cell. The
dominant gene, such as the purple flower in Mendel's plants, will hide the recessive gene,
the white flower. After Mendel self-fertilized the F1 generation and obtained the 3:1 ratio,

Mendel correctly theorized that genes can be paired in three different ways for each
trait; AA, aa, and Aa. The capital A represents dominant factor and lowercase a
represents recessive.

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 Mendel stated that each individual has two factors for each trait, one from each
parent. The two factors may or may not contain the same information. If the two
factors are identical, the individual is called homozygous for the trait. If the two factors
have different information, the individual is called heterozygous. The alternative forms
of a factor are called alleles. The genotype of an individual is made up of the many
alleles it possesses. An individual's physical appearance, or phenotype, is determined
by its alleles as well as by its environment. An individual possesses two alleles for each
trait; one allele is given by the female parent and the other by the male parent. They are
passed on when an individual matures and produces gametes: egg and sperm. When
gametes form, the paired alleles separate randomly so that each gamete receives a
copy of one of the two alleles. The presence of an allele doesn't promise that the trait
will be expressed in the individual that possesses it. In heterozygous individuals the only
allele that is expressed is the dominant. The recessive allele is present but its
expression is hidden. Mendel summarized his findings in two laws; the Law of
Segregation and the Law of Independent Assortment

A. Law of Segregation
The Law of Segregation states that when any individual produces gametes, the
copies of a gene separate, so that each gamete receives only one copy. A gamete will
receive one allele or the other. The direct proof of this was later found when the process
of meiosis came to be known. In meiosis the paternal and maternal chromosomes get
separated and the alleles with the characters are segregated into two different gametes.
B. Law of Independent Assortment
The Law of Independent Assortment, also known as "Inheritance Law", states
that alleles of different genes assort independently of one another during gamete
formation. While Mendel's experiments with mixing one trait always resulted in a 3:1
ratio between dominant and recessive phenotypes, his experiments with mixing two
traits (dihybrid cross) showed 9:3:3:1 ratios. But the 9:3:3:1 table shows that each of the
two genes are independently inherited with a 3:1 ratio. Mendel concluded that different
traits are inherited independently of each other, so that there is no relation, for example,
between a cat's color and tail length. This is actually only true for genes that are not
linked to each other.

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 Independent assortment occurs during meiosis I in eukaryotic organisms,
specifically metaphase I of meiosis, to produce a gamete with a mixture of the
organism's maternal and paternal chromosomes. Along with chromosomal crossover,
this process aids in increasing genetic diversity by producing novel genetic
combinations.

In independent assortment the chromosomes that end up in a newly-formed

gamete are randomly sorted from all possible combinations of maternal and paternal
chromosomes. Because gametes end up with a random mix instead of a pre-defined
"set" from either parent, gametes are therefore considered assorted independently. As
such, the gamete can end up with any combination of paternal or maternal
chromosomes. Any of the possible combinations of gametes formed from maternal and
paternal chromosomes will occur with equal frequency. For human gametes, with 23
pairs of chromosomes, the number of possibilities is 2×23 or 8,388,608 possible
combinations. The gametes will normally end up with 23 chromosomes, but the origin
of any particular one will be randomly selected from paternal or maternal chromosomes.
This contributes to the genetic variability of progeny.
Mendel's Laws
Mendel postulated three laws, which are now called after his name as Mendel’s
laws of heredity. These are:
1. Law of dominance and recessive
2. Law of segregation
3. Law of independent assortment

Mendalian Inheritance Pattern

1. Law of Dominance

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 Definition: When two homozygous individuals with one or more sets of contrasting
characters are crossed, the characters that appear in the F1 hybrids are dominant
characters and those do notappear in F1 are recessive characters.

Law of dominance- If there are two alleles coding for the same trait and one is dominant
it will show up in the organism while the other won't

Explanation: The dominance and recessive of genes can be explained on the basis of
enzymatic functions of genes. The dominant genes - are capable of synthesizing active
polypeptides or proteins that form functional enzymes, whereas the recessive genes
(mutant genes) code for incomplete or non-functional polypeptides. Therefore, the
dominant genes produce a specific phenotype while the recessive genes fail to do so. In
the heterozygous condition also the dominant gene is able to express itself, so that
the heterozygous andhomozygous individuals have similar phenotype.

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 Critical appreciation of Law of Dominance
Scientists conducted cross-breeding experiments to find out the applicability of
law of dominance. The experiments were conducted by Correns on peas and maize,
Tschermak on peas, by De Vries on maize etc., by Bateson and his collaborators on a
variety of organisms, by Davenport on poultry, by Furst on rabbits, by Toyama on silk
moth and by many others. These scientists observed that a large number of characters in
various organisms are related as dominant and recessive.
Importance of law of dominance
The phenomenon of dominance is of practical importance as the harmful
recessive characters are masked by the normal dominant characters in the hybrids. In
Human beings a form of idiocy, diabetes, haemophilia etc. are recessive characters. A
person hybrid for all these characteristics appears perfectly normal. Thus harmful
recessive genes can exist for several generations without expressing themselves.
Exceptions to Law of Dominance is the Incomplete Dominance. After Mendel
several cases were recorded by scientists, where F1 hybrids exhibited a blending of
characters of two parents. These hybrids were found to be midway between the two parents.
This is known as incomplete dominance or blending inheritance. It means that two genes of
the allelomorphic pair are not related as dominant and recessive, but each of them
expresses itself partially. As for example, in four-o'clock plant, Mirabilis jalapa, when
plants with red flowers (RR) are crossed with plants having white flowers (rr), the hybrid F1
plants (Rr) bear pink flowers. When these F1 plants with pink flowers are self-pollinated
they develop red (RR), pink (Rr) and white (IT) flowered plants in the ratio of 1 : 2 : 1 (F2
generation).

2. Law of Segregation (Purity of Gametes)

Explanation - The law of segregation states that when a pair of contrasting factors or genes or
allele morphs are brought together in a heterozygote (hybrid) the two members of the

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allelic pair remain together without being contaminated and when gametes are formed from the
hybrid, the two separate outfrom each other and only one enters each gamete.
Example - Pure tall plants are homozygous and, therefore/possess genes (factors) TT;
similarly dwarf possess genes tt. The tallness and dwarfness are two independent but
contrasting factors or determiners. Pure tall plants produce gametes all of which possess
gene T and dwarf plants t type of gametes.
During cross fertilization gametes with T and t unite to produce hybrids of F1
generation. These hybrids possess genotype Tt. It means F1 plants, though tall
phenotypically, possess one gene for tallness and one gene for dwarfness. Apparently,
the tall and dwarf characters appear to have become contaminated developing only tall
character. But at the time of gamete formation, the genes T (for tallness) and t (for
dwarfness) separate and are passed on to separate gametes. As a result, two types of
gametes are produced from the heterozygote in equal numerosity. 50% of the gametes
possess gene T and other 50% possess gene t. Therefore, these gametes are either pure
for tallness or for dwarf ness. (This is why the law of segregation is also described as Law of
purity of gametes).

F1 Plants Tt X Tt

T t T t

Gametes unite at random and when gametes are numerous all possible
combinations can occur, with the result that tall and dwarf appear in the ratio of 3 :1. The
results are often representedby Punnett square as follows:
Critical appreciation of law of segregation
It has been confirmed by cytological studies that dominance or no dominance, the
law of segregation holds good to all cases. Its far reaching applicability has made it rare

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biological generalization. RR have only gene for round
Rr, rR have gene for round and wrinkle
Rr have only wrinkeld gene

RR Rr

R r

Rr

R r

R RR Rr

r Rr Rr

Round wrinkled : 3:1

Below diagram suggest the another example for Dominant Characters are moving from
one generation to another generation

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3. Law of Independent Assortment
Definition: The inheritance of more than one pair of characters (two pairs or more) is
studied simultaneously, the factors or genes for each pair of characters assort out independently
of the other pairs. Mendel formulated this law from the results of a dihybrid cross.
Explanation: The cross was made between plants having yellow and round cotyledons
and plants having green and wrinkled cotyledons.
The F1 hybrids all had yellow and round seeds. When these F 1 plants were self
fertilized they produced four types of plants in the following proportion:
(i) Yellow and round 9
(ii) Yellow and wrinkled 3
(iii) Green and round 3
(iv) Green and wrinkled 1
The above results indicate that yellow and green seeds appear in the ratio of 9 + 3 : 3 + 1
= 3 : 1. Similarly, the round and wrinkled seeds appear in the ratio of 9 + 3 : 3 +1 = 12:4 or 3 :1.
This indicates that each of the two pairs of alternative characters viz. yellow-green cotyledon
colour is inherited independent of the round-wrinkled character of the cotyledons. It means at the
time of gamete formation the factor for yellow colour enters the gametes independent of R or r, i.e,
gene Y can be passed on to the gametes either with gene R or r.
Cytological explanation of the results: In the above experiment yellow and round
characters are dominant over green and wrinkled characters which can be represented as follows:
(i) gene for yellow colour of cotyledons Y
(ii) gene for green colour of cotyledons y
(iii) gene for round character of cotyledons R
(iv) gene for wrinkled character of colyledons r
Therefore, plants with yellow and round cotyledons will have their genotype YYRR and
those with green and wrinkled cotyledons will have a genotype yyrr. These plants will produce
gametes with gene YR and yr respectively. When these plants are cross pollinated, the union of
these gametes will produce F1 hybrids with YyRr genes. When these produce gametes all
the four genes have full freedom to assort independently and, therefore, there are
possibilities of four combinations in both male and female gametes.
(i) RY (ii) Ry (iii) rY (iv) ry
This shows an excellent example of independent assortment. These gametes can
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unite at random producing in all 16 different combinations of genes, but presenting four
phenotypes in the ratio of9: 3: 3: 1.
Dihybrid ratio : RR yy - Round, yellow seeded ; Rr yy - Wrinkled and greed seeded

Test cross
F1 Rr Yy x rr yy
(recessive)
1:1:1:1 ratio
Critical appreciation of law of Independent Assortment-
The law of independent assortment fails to have a universal applicability. Cytological
studies have revealed that only those allelomorphs assort independently during meiosis, which
are located in different homologous pairs of chromosomes. But, if the allelomorphs for different
characters are present in the same homologous pair of chromosomes, these are passed on
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to the same gamete. Law of independent assortment does not apply to such cases.

BIOLOGICAL SIGNIFICANCE OF MENDEL'S LAWS

Mendel's work remained burried for about three decades, but after its rediscovery, the
laws are being used for the various branches of breeding. These are use for improving the
varieties of fowls and theireggs; in obtaining rust-resistant and disease-resistant varieties of grains.
Various new breeds of horses and dogs are obtained by cross breeding experiments. The
science of Eugenics is the outcome of Mendelism,which deals with the betterment of human
race.

MONOHYBRID CROSS
A cross is made between two true-breeding parents differing for a single trait,
producing an F1 generation. These plants are intercrossed to produce an F2 generation.

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 Dihybrid Crosses
In a dihybrid cross experiment, Mendel considered two traits, each having two alleles. He
crossed wrinkled-green seed and round-yellow seeds and observed that all the first
generation progeny (F1 progeny) were round-yellow. This meant that dominant traits were
the round shape and yellow colour.

He then self-pollinated the F1 progeny and obtained 4 different traits: round-yellow, round-
green, wrinkled-yellow, and wrinkled-green seeds in the ratio 9:3:3:1.

After conducting research for other traits, the results were found to be similar. From this
experiment, Mendel formulated his second law of inheritance i.e. law of Independent
Assortment.

The Test cross

Because some alleles are dominant over others, the phenotype of an organism
does not always reflect its genotype. A recessive phenotype (yellow) is only expressed
with the organism is homozygous recessive (gg). A pea plant with green pods may be
either homozygous dominant (GG) or heterozygous (Gg). To determine whether an
organism with a dominant

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 phenotype (e.g. green pod color) is homozygous dominant or heterozygous, you use a
testcross.
The breeding of an organism of unknown genotype with a homozygous recessive. If all the
progeny of the testcross have green pods, then the green pod parent was probably homozygous
dominant since a GG x gg cross produces Gg progeny. If the progeny of the testcross contains both
green and yellow phenotypes, then the green pod parent was heterozygous since a Gg x gg cross
produces Gg and gg progeny in a 1:1 ratio. The testcross was devised by Mendel and is still an
important tool in genetic studies.

Phenotype
The term "phenotype" refers to the observable physical properties of an organism; these include
the organism's appearance, development, and behavior. An organism's phenotype is determined by its
genotype, which is the set of genes the organism carries, as well as by environmental influences upon
these genes. Due to the influence of environmental factors, organisms with identical genotypes, such
as identical twins, ultimately express non identical phenotypes because each organism encounters

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unique environmental influences as it develops. Examples of phenotypes include height, wing length,
and hair color. Phenotypes also include observable characteristics that can be measured in the
laboratory, such as levels of hormones or blood cells.
In genetics, a phenotype is defined as the observable traits or characteristics of an organism
which is the result of the interaction of genes and environmental factors. These traits include physical
appearances and any other traits that we can observe.
The phenotype of an organism includes its physiological, biochemical, and behavioural
properties. Unlike genotype, which is inherited from the parents, the phenotype is affected by lifestyle
and environmental factors. Environmental factors include temperature, nutrition, humidity and mental
health of the organism.

For example, flamingoes are originally white in colour but turn pink due to pigments they acquire
from their diet. Thus, flamingoes portray how they are influenced by environmental factors. It also
suggests that the phenotype of an organism constantly changes, depending on the environmental
factors.

Difference between Genotype and Phenotype

Genotype Phenotype

The hereditary information of the organism is in The characteristics of an organism

the form of genes in the DNA and remains the which are visible are known as
same throughout the life. phenotypes.

The same genotype produces the same The same phenotype may or may not
phenotype. belong to the same genotype.

Present inside the body as genetic material. Expression of genes as the external
appearance.

The genotype is inherited from the parent to the The phenotype is not inherited from the
offspring. parent.

It can be determined by scientific methods such It can be determined by observing the

as the polymerase chain reaction. organism.

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It is affected by genes. It is affected by genotype and
environmental conditions.

For e.g., Blood group, eye colour, height, and For e.g., Weight, physique, and beak of
genetic diseases. birds

INTERACTIONS OF GENES:

The phenomenon of two or more genes governing the development of a single character in such
away that they affect the expression of each other in various ways is known as gene interaction.
When one gene affects in any way the expression of another gene, the phenomenon is called
epistatis. Thus all cases of gene interaction are examples of epistatis. But sometimes the term epistatis has
been used to denote the masking effect of one gene on the expression of another gene.
There are several types of gene interaction. Some of the common gene interactions are as follows:
1. Typical dihybrid ratio for a single trait(9:3:3:1)
2. Duplicate geneaction (15:1)
3. Complementary gene action(9:7)
4. Supplementary gene action(9:3:4)
5. Inhibitory gene action(13:3)
6. Masking gene action(12:3:1)
7. Polymeric gene action(9:6:1)

In the 20 the century, the geneticists have extended Mendelian principles not only to diverse
organisms, but also to patterns of inheritance more complex than Mendel actually described.
But relationship between genotype and phenotype is rarely so simple.
By now, geneticists found out a lot of other patterns of inheritance. These patterns are referred to the non-
Mendelian Genetics because many facts can not be clarified using Mendel’s Laws. But some of them can be
clarified by gene interaction ,i.e.,by simultaneous influence of different genes on different characters.

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 Mechanism of gene interaction
We know that genes are segments of the DNA that code for a particular polypeptide in the formof a
specific sequence of its base pair. The polypeptide chain may act as a structural protein and form cellu-lar
organelle or form proteinaceous biochemical such as hemoglobin, insulin, or serve as an enzyme and
catalyze some chemical reaction. In other words, a polypeptide may contribute to a morphological or a func-
tional trait (phenotype) of an organism.
Proteins are the end products of gene expression, and so gene interactions are interactions between
proteins that are controlled by these genes (Genes do not interact directly [with the exception of such cases
as synapsis and crossing-over in meiosis] ). Here by, gene interaction has biochemical basis.

Types of Gene Interactions

Gene interactions can be classified as:
 Interaction of allelic genes
 Interaction of non-allelic genes
[A reminder: Allelic genes are genes located in the identical loci of homologous
chromosomes; non-allelic genes are genes located in the different loci of homologous
chromosomes or in the non-homologous chromosomes ]

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 INTERACTION OF ALLELIC GENES
1. Interactions of allelic genes
Alleles can interact with each other in complex ways: complete dominance, incomplete domi-
nance, codominance, and super dominance (over dominance).

Complete dominance:
Mendel’s lawsdescribea relatively simplepatternof inheritance: each character is determined
by one gene, for which there are only two alleles, one completely dominant to the other. This type
of gene interac- tion is called complete dominance.
In complete dominance both heterozygotes (Aa) and dominant homozygotes (AA) have the
same phenotype. In complete dominance, the dominant allele must produce enough of its protein
products So, that a single copy of the dominant allele (as in a heterozygote) gives the maximum
phenotypic response.
Inheritance patterns of some human traits also obey Mendelian laws and correspond to
complete dominance. An English physician Archibald Garrod (1857-1936) was the first to connect
a human disorder with Mendel's laws of inheritance. He also proposed the idea that diseases came
about through a metabolic route leading to the molecular basis of inheritance.
In 1903, Garrod demonstrated that human diseases were transmitted according to Mendel’s
laws, and in particular, a disease alkaptonuria (black urine disease). A. Garrod collected family
history information (as well as urine) from his patients and revealed the ratio of 3:1 (dominant /
recessive relationship, auto-somal recessive disease) in affected families that corresponded to
Mendelian principles of inheritance. He noted that affected individuals excrete homogentisic acid in
their urine as a result of the breakdown of dietary pro- teins. Garrod postulated that the disease
was due to a defect in an enzymatic pathway -“inborn error in me- tabolism”. It was also the first
suggestion that genes can code for enzymes.
Typical examples of dominant human traits are dark color of hair and eyes, thick lips, big
nose, long and wide ears and also some deformities and diseases, for instance, extra finger
(polydactyly), elliptocyto- sis, achondroplasia, congenital dislocation of the hip.
Incomplete dominance:
Works on problems of heredity have shown that the dominance is not of universal occurrence
and there are many examples of incomplete dominance in which the genes of an allelomorphic pair
express themselves partially when present together in the hybrid. As a result the heterozygotes
(Aa) are phenotypi- cally intermediate between two homozygous types (AA × aa).
For instance, when red snapdragon plants are crossed with white snapdragon plants, all the
F1 hy- brids have pink flowers. This third phenotype results from the heterozygote flowers having
less red pigment than the red homozygotes. The breeding of the F 1hybrids produces F2offspring

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with a phenotypic ratio of 1 red to 2 pink to 1 white. In incomplete dominance we can distinguish
the heterozygotes from the two homo- zygous varieties, and the genotypic and phenotypic ratios
for the F2 generation are the same, 1 : 2 : 1. The segregation of the red and white alleles in the
gametes produced by the pink-flowered plants confirms that the genes for flower color are heritable
factors that maintain their identify in the hybrids; that is, inheritance is particulate.

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 It is incomplete dominance – the kind of inheritance of allelic genes where a cross between organ-
isms with two different phenotypes (AA × aa) produces offspring with a third phenotype that is a blending
(Aa) of the parental traits. Incomplete dominance is manifested when the interacting enzymes are slightly
different in their activity.
In humans, traits with incomplete dominant inheritance are size of nose, salience of lips, size of
mouth and eyes, distance between eyes, hair types (straight, wavy) and such hereditary disorders as
Friedreich’s ataxia, cystinuria are inherited according to principle of incomplete dominance. For any
character, the domi nant/recessive relationship we observe depends on the level at which we examine
phenotype; e.g., con- sider a fatal recessive Tay-Sachs disease, inherited disorder of lipid metabolism when
crucial enzyme hexosaminidase does not work properly. Brain cells of Tay-Sachs babies lack a crucial lipid-
metabolizing enzyme. Thus, lipids accumulate in the brain, causing the disease symptoms and ultimately
leading to death.
At the organism level of normal versus Tay-Sachs phenotype, the Tay-Sachs allele qualifies as a re-
cessive (aa).
At the biochemical level, however, we observe intermediate phenotype characteristic of
incompletedominance. The hexosaminidase enzyme deficiency can be detected in heterozygotes who have
anactivitylevel of the lipid-metabolizing enzyme that is intermediate between individuals homozygous for the
normal allele and individuals with Tay-Sachs disease. Heterozygous individuals are genetically programmed
to produce only 40-60% of the normal amount of an enzyme that prevents the disease.

Co dominance
Codominance is a kind of gene interaction, in which the hetero zygotes express both dominant
pheno- types. Inhuman, an example is AB type of ABO blood system. The heterozygote fully expresses both
alleles. Blood type AB individuals produce both A and B antigens. Since neither A nor B is dominant over
the other and they are both dominant over O theyare said to be co-dominant.
Multiple alleles
In some cases a gene for a character may exist in many alternative alleles.
For example, gene responsible for the color of eyes in Drosophila fruit fly exists in 20 alternative
alleles. These forms of a gene are due to mutation of a single wild type. When more than two allelic forms of
wild type are located on the same locus in a given pair of chromosomes, they are known as the series of
multiple alleles.
Now, if there are 4 or more possible phenotypes for a particular trait, then more than 2 alleles for that
trait must exist in the population.
Another example of multiple alleles is the inheritance of coat-color in domestic rabbits. In rabbits coat
color is determined by 4 alleles. The dominant allele C causes full color of coat. Recessive homozygotes
(cc) have white (albino) color of coat. However, there are still some alleles of this gene, having own pheno -
type in homozygous condition - chinchilla (cch cch), Himalayan (chch). The allele cch is dominant to the alleles
ch and c, and at the same time is recessive to the allele C. The same as allele cch, allele chis dominant to the
allele c and is recessive to the allele cch. In that way, dominance is relative property of genes.

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 In human population, one of examples of multiple allelism is inheritance of ABO blood
types involving three alleles (i, IA, IB). Some traits are controlled by far more alleles. The
human HLA system (histo-compatibility gene complex), which is responsible for identifying and
rejecting foreign tissue in our bodies, can have at least 30,000,000 different genotypes. The
histo-compatibility gene complex consists of at least four genes located upon the
chromosomes of sixth pair, and each gene has up to about 100 alleles. It is the HLA sys- tem
which causes the rejection of organ transplant. Unless identical twins tissue transplantation is
generally unsuccessful. The host immune system reacts to produce antibodies which destroy
the transplant.
The phenomenon of multiple allelism results in phenotypical heterogeneity of human
populations. Now, if there are 4 or more possible phenotypes for a particular trait, then more
than 2 alleles for that trait must exist in the population.

MULTIPLE ALLELES

Allele is a shorter term than allelomorph (another form) is the alternate form of gene.
Many genes have two alternate forms but several other have more than two alternate forms.
More than two alleles at the same locus give rise to a multiple allelic series. Multiple alleles can
be defined as a series of forms of a gene situated at the same locus of homologous
chromosomes. According to Mendel, each gene had two alternate forms or allele morphs are
being dominant and the other being recessive. Dominant being the wild type from which
recessive mutant was evolved through mutation. Likewise, a wild type can mutate inmanyways
and produce many mutant forms and a mutant can again undergo another mutation and give
rise to a new mutant. Hence, a gene can exist in more than two allelomorphs. Usually wild type
allele is dominant over its recessive allele. wild allele is represented as + .
Multiplealleles can be defined asa
 Series of forms of a gene
 Situated at the same locus of homologous chromosomes
 Affecting samecharacter.
Multiple alleles are
 Different forms of the same gene
 that is the sequence of the bases is slightly different in the genes located on the same
place of the chromosome.

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Example for Multiple alleles: Rabbit Coat Colour

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 Multiple alleles are alternative states at the same locus. Remember: each individual will
only have two alleles for a trait but there are several alleles to choose from.) The classical
example for multiple alleles is human blood group self incompatibility in tobacco, coat colour in
rabbit, self incompatability genes in brassica.
The number of possible genotypes in a series of multiple allelesis ½n(n+1)
n = no of alleles
 Di-allelic gene can generate 3 genotypes.
 Genes with 3 alleles can generate 6 genotypes.
 Genes with 4 alleles can generate10 genotypes.
 Genes with 8 alleles can generate 36 genotypes
Important features of multiple alleles
1) Multiple alleles always belong to the same locus and one allele is present at a locus at atime
in a chromosome
2) Multiple alleles always control the same character of an individual
3) Wild type allele is dominant over other alleles
4) There is no crossing over in the multiple alleles
5) In a series of mutiple alleles wild type is always dominant
6) When two mutant types are crossed wild form cannot be recovered
7) The cross between two mutant alleles will always produce mutant phenotype. Examples of
multiple alleles are 1) fur colour in a rabbit, 2) ABO blood group in man 3) Wing type in
drosophila 4) Eye colour in drosophila etc. Fur colour in Rabbit. In rabbit, three alternate forms
of genes, which controls coat colour. C causes wild type and its alleles.

Skin colour in rabbit

Inrabbits,fou rkinds of skin colour are known.

CC,Ccch,Cch, Cca - Agouti(wild type)

ch ch ch h ch
c ,c ,c c ,c c - Chinchilla(salivary grey hair)

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ch ch, ch c - Himalayan (white except black feet nose ear tail)
cc - Albino (complete white).
Agouti
This has full colour and is also known as wild type. This colour is dominant over all the
remaining colour and produces agouti colour in F1 and 3:1 ratio in F2 when crossed with any of
the other three colours in rabbits. C represents this colour.
Chinchilla
This is lighter than agouti. This colour is dominant over Himalayan and albino and
produces chinchilla in F1 and 3:1 ratio in F2 when crossed either Himalayan or albino. This is
represented by cch.
Himalayan
The main body is white while the tips of ear, feet, tail and snout are coloured. This colour
is dominant over albino and produces 3:1 ratio in F2 when crossed with albino. This is
represented by ch.
Albino
This has pure white fur colour and is recessive to all other types. This is represented by
c. Thus the order of dominance for fur colour in rabbits can be represented as follows.
Agouti Chinchilla Himalayan Albino
(C) (cch) (ch) (c)
ABO Blood group in man.
Antibody
Antibody is a type of protein, which is commonly referred to as immunoglobin. It is
usually found in the serum or plasma. The presence of antibody can be demonstrated by its
specific reaction with an antigen.
Antigen
An antigen refers to an substance or agent, which when introduced into the system of
vertebrate animal like cow, goat, man etc induces the production of specific antibody, which
binds specifically to this (Antigen) substance Antigen are located in the red blood corpuscles
(RBC). If a person has a particular antigen in his RBCs, his serum has usually antibodies
against the other antigen. In human RBC two types of antigens viz A and B are present.
Depending upon the presence or absence of antigen A and B the blood group in man is of four
types viz A, B, AB and O. A person with blood group A has antigen A on the surface of RBCs:
protein with blood group B will have antigen B those with blood group AB have antigens A and
B; and those with blood group O have no antigen on the surface of their RBCs.

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 Blood Genotype Antigen Antibody Compatible
Group found present blood group
A IAIA,IAIA A B A and O
B IBIB, IbIb B A B and O
AB
AB II AB None A,B,AB,O
O ii None AB O

Recent studies shows that antigen is galactosamine and B is galactose Antibodies A, B,

AB and None and are naturally present in the serum of individuals having A,B,AB, and O blood
group respectively. The agglutination or coagulation of RBCs leads to clotting of blood due to
interaction between antigen antibody. The blood group B cannot be transferred to an individual
having blood group A because the recipient has antibody against antigen B which is present on
the RBCs of blood group B. Similarly the reverse transfusion is not possible. The blood group
AB does not have antibody A and B. Hence, individuals with AB blood group can accept all
types of blood, viz., A, B, AB and O. Such individuals are known as universal acceptors or
recipients. The O blood group does not have any antigen and has antibody against antigen A
and B, It cannot accept blood group other than O. Individuals with blood group O are known as
universal donors, because transfusion of blood group O is possible with all the four blood
types. The consideration of Rh (rhesus) type is important in blood transfusion. Each blood
group has generally two types of Rh group, viz positive and negative. The same type of Rh is
compatible for blood transfusion Opposite type lead to reaction resulting in death of the
recipient. These are few examples of multiple alleles. Now, it is believed that multiple alleles are
present almost for all genes.

Multiple alleles in plants

The classical example of multiple alleles in plants is ‘self incompatability alleles’ which
prevents self fertilization.

Multiple alleles in Maize

Multiple allelic series affecting seed coloris seen in Maize.
A Mutation a Mutation a’
(purple) (white) light purple

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 Lethal action of genes
Genes which become a cause for death of individuals carrying them are called as lethal
genes. Lethal alleles can be dominant and recessive. In crossing of heterozygous carriers,
expected ratio comes equal to 2:1, because the presence of a lethal gene in homozygous condition
often leads to the embryonic death during the early stages of development.
In humans examples of lethal genes are brachidactyly (dominant trait), thalassemia and
sickle-cell anaemia (recessive traits, these diseases are also called haemoglobinopathies).
Thalassemia is hereditary disorder of haemoglobin synthesis.
(Haemoglobin is protein, located in erythrocytes. It carries out the transport of oxygen.
Haemoglobin molecule has two components, the "haeme" part, containing the iron atom
and globin portion, formed by four polypeptide chains. InHbA (haemoglobin in adult) these
are two α chains and two β chains. The α -chain has 141 amino acids and β-chain has 146
amino acid. The α-chain is coded by α gene on chromosome 16. The β-chain is coded by β
gene on chromosome 11. Since they are located on different chromosomes, mutation may
involve either α-chain or β-chain.)
The disease leads to the decreased production and increased destruction of RBCs.
Thalassemia is originated in the Mediterranean region, so its name is derived from a Greek
word “tha- lassa” meaning “the sea”. It is also called Mediterranean anaemia according to its
distribution.
In talassemia the structure of haemoglobin is not defective however the rate of synthesis of
any oneof polypeptide chains is lowered. This synthesis rate reduction of one chain leads to
excessof other having normal synthesis rate, and creates problems with maturation and survival of
erythrocytes.

There are two groups of the disease: α-talassemia, which is characterized by a lowered rate of syn-
thesis or an absence of synthesis of αchains and β-talassemia (defectin β chain synthesis). β-
talassemia occurs more frequently and is caused by mutation or deletion of β gene on
chromosome11. Homozygotes for this gene perish in 90-95% of cases. Living homozygotes have
severe anaemia, which is called talas- semia major or Cooley’s anaemia. The most striking
diagnostic character of talassemia is appearance in great number of target-like erythrocytes.
Symptoms: severe anemia, and the oxygen depletion in the body becomes apparent within the first 6 months
of life. If left untreated, death usually results within a few years.

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 2. NON-ALLELIC GENE INTERACTIONS
The genes of an individual do not operate isolated from one another, but
obviously are functioning in a common cellular environment. Thus, it is expected
interactions between genes would occur. It means that a trait can be controlled
by numerous genes, perhaps up to 100 or more.
1. Mechanism of inter-allelic gene interaction
Most cell processes are the culmination of a set of reactions linked together
into a pathway. Each of the reactions is controlled by a different enzyme, and
each enzyme is the product of a separate gene.
Enzyme1 Enzyme2
Molecule A → Molecule B → Molecule C

In the hypothetical pathway above, molecule A is converted into molecule B

by enzyme 1 and mole- cule B is then processed to become molecule C by
enzyme 2. If either enzyme 1 or enzyme 2 is defective, molecule C cannot be
manufactured, producing a mutant phenotype. Defects in enzyme 1 or 2 may
show up as one or two mutant phenotypes. The result of defects in such
pathways leads to modified Mendelian phenotypic ratios for crosses. The
simplest cases of gene interaction to consider are those in which only two genes
are interacting to produce a single phenotype, normally.
There are various ways in which genes at different locic an interact with each
other.
Non-allelic genes can interact with each other in complex ways:

Complementary, Supplementary, epistasis, poly-genic inheritance

1) Typical dihybrid ratio for a single trait (9:3:3:1)

This type of gene interaction produces thetypical di-hybrid ratio of 9:3:3:1in
F2 for a single character. Evidently the concerned character is governed by two
genes showing complete dominance.
In case of chickens or fowls, comb shape is governed by two genes. While
one gene gives rise to rose comb, another gives rise to pea comb. Each of
these two is dominant over single comb. However, when both are brought
together, a new phenotype ‘walnut’ appears.

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 As worked out by Bateson and Punnett, when both dominant alleles are
present ‘walnut’ phenotype appears and when both recessive alleles are present
‘single’ comb appears. ‘Rose’ and ‘Pea’ phenotypes appear due to the presence
of different single dominant alleles. If pea (rrPP) and rose (RRpp) are crossed,
F1 birds showed ‘walnut’ comb as it has the dominant alleles of both the genes
P and R.

Later on, when the F1 walnut combed birds were inbred together, in F 2
generationthere appeared walnut, rose, peaand single combed fowls. These
types occurred in the proportions; 9/16 walnut, 3/16 rose, 3/16 pea and 1/16
single.

The mode of inheritance of the genes for ‘rose’ and ‘pea’ does not differ at all from
the usual Mendelian scheme. The differences that distinguish this and similar
cases from simple di-hybrid inheritance are that (i) the F 1 does not resemble with
parentsand (ii) apparently new or unusual characters (walnut) results from an
interaction between two independently inherited genes, and the other (single
comb) results from the interaction of their two recessive alleles. These
peculiarities are not due to a new method of inheritance but simply to the fact or
circumstance that both genes involved happen to express themselves in this case
(fowl comb).
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 2) Complementary Genes:

Complementation: 9:7 Ratio. Example: Flower color in sweetpea.

Complementation is a kind of gene interaction where the manifestation of a character is
determined by presence of two dominant genes of different allelomorphic pairs simultaneously
(A_B_).
If two genes are involved in a specific pathway and functional products from both are required
for ex- pression, then one recessive allelic pair at either allelic pair would result in the mutant
phenotype. This is graphically shown in the following diagram.

If a pure line pea plant with colored flowers (genotype = CCPP) is crossed to pure line,
homozygous reces- sive plant (ccpp) with white flowers, the F1plantwillhave colored flowers and a
CcPp genotype. The nor mal ratio from selfing dihybrid is 9:3:3:1, but interactions of the C and P
genes will give a modified 9:7 ratio. The following table describes the interactions for each
genotype and how the ratio occurs.

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Genotype FlowerColor Enzyme Activities
9 CCPP Flowers colored; anthocyan in produced Functional enzymes from both genes
3Ccpp Flowers white; no anthocyan inproduced P enzyme non-functional
3ccPp Flowers white;no anthocyan in produced C enzyme non-functional
1ccpp Flowers white;no anthocyan in produced c and p enzymesnon-functional
Because both genes are required for the correct phenotype, such interaction is called
complementary gene action (complementation).

Complementary geneaction (9:7):

Another Example: In sweet pea (Lathyrus odoratus) two varieties of white flowering plants
were seen. Each variety bred true and produced white flowers in successive generations.
According to Bateson & Punnett, when two such white varieties of sweet pea were crossed, the
offspring were found to have purple coloured flowers in F 1 but in F2generation 9 were purple and
7 white. This is again a modification of 9:3:3:1 ratio, where only one character i.e., flower colour is
involved.

It is clear in the above example that for the production of the purple flower colour both
complementary (C and P) genes are necessary to remain present. In the absence of either genes
(C or P) the flowers are white.

Thus, it is clear that genes C and P interact and presence of both is essential for the purple
colour in the flower. These types of genes in which one gene complements the action of the other
gene, constitute complementary genes or factors. (Complementation between two non-allelic
genes (C and P) are essential for production of a particular or special phenotype i.e.,
complementary factor)

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Genotypes and Phenotypes of F2 and breeding behavior expected in F2
of complementary

Aleur one colour in maize is also controlled by complementary

genes.

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 3) Supplementary gene action (9:3:4):
Here only one factor is sufficient to produce a phenotypic expression but
addition of another factor causes the change in expression.
Or
Supplementary genes are two independent dominant genes interacting to
produce a phenotypic expression different from that produced by either gene
alone.
Or
In supplementary gene action, the dominant allele of one gene is
essential for the development of the concerned phenotype, while the other gene
modifies the expression of the first gene. For example, the development of grain
colour in maize is governed by 2 dominant genes ‘R’ and ‘P’.
The dominant allele ‘R’ is essential for red colour production;
homozygous state of the recessiveallele ‘r’(rr) checks the production of red
colour. The gene‘P’ is unable to produce any colour on its own but it modifies
the colour produced by the gene ‘R’ from red to purple. The recessive allele ‘p’
has no effect on grain colour.

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33
 Showing genotypes and phenotypes of F2 behavior of supplementary factors in
grain colour of maize:

Examples of supplementary factors have also been seen in other plants and
animals too. For instance, it is clearly visible in skin colour of house mouse and
guinea pigs. When black mice are crossed with ordinary albinos, the progeny
are usually all agouti like the wild type. When these F1 agouties are inbred,
their progeny consists of 9/16 agouti, 3/16 black and 4/16 albino animals.

4. Inhibitory geneaction (13:3):

In this type of modification two pairs of genes are involved and one of
the non-allelic dominant gene inhibits the expression of the other non-allelic
dominant gene.
Or
A gene which inhibits the expression of an active allele situated at
different locus is called as inhibitory gene. Thus, in inhibitory gene action one
dominant inhibitory gene prevents the expression of another dominant gene.
Example of inhibitory gene is pigmentation in rice plants. In rice plants, the
presence of gene ‘P’ is responsible for deep purple leaves. But if a gene ‘I’ is
present then the expression of purple leaf colour is inhibited and the leaf
becomes normal green. Thus, in a cross, between green (IIpp) and purple
(iiPP), all the offsprings in F 1are green but in F2 progeny, green and purple
are obtained in ratio of 13:3. This modifies the typical 9:3:3:1 F 2 ratio in to a
13:3ratio.

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 It is now well understood that pigmentation in rice plant is governed
bytwo non-allelic genes. ‘P’ gene produces purple colour while its recessive
‘p’ green colours. Another dominant gene ‘I’ which produces green colour in
rice plants, inhibits or prevents the colour production by ‘P’ when both ‘I’ and
‘P’ are present together.
The recessive alleles ‘I’ is ineffective and does not affect the colour
production in any way in rice plants. Other examples of inhibitory gene action
are the development of feather colour in fowls, seed colour in maize etc.
Bateson and Punnett for the first time made the discovery of Inhibitory gene in
fowls.

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 Genotypes and phenotypes of F2 generation:

5. Polymeric gene action (9:6:1):

When two genes govern any character separately, their effect is equal but when
both the genes are present together, there phenotypic effect is increased or raised as if
the effects of the two genes were additive or cummulative. It is not able in this case that
both the genes show complete dominance. “Additive or cummulative effect of genes
present at different loci is called polymerism.”

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 In wheat three types of pericarp colour is found:
(i) Deep red (ii) Light red and (iii) Colourless. When a cross is made between
plants having deep red (AABB) and colourless (aabb) pericarp, the F1 (AaBb) has deep
red pericarp due to the additive effect of both the genes A and B.
In F2 generation, on an average, 9/16 plants will have dominant alleles of both the
genes A and B; as a result these plants will produce deep red per-carp. 6/16 plants will
have light red pericarp since they have either A or B, but not both. The rest 1/16 plant will
be homozygous recessive for both the genes and will be therefore, colour less.

Genotypes and phenotypes of the F2 generation:

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Thus, polymerism interaction modifies the typical 9:3:3:1 ratio into 9:6:1 ratio. Other examples of
polymerism interaction are also known, e.g., fruit shape in summer squash etc.

Duplicate gene action: 15:1

Example: Kernel Color in Wheat.
For this type of pathway a functional enzyme A or B can
pro- duce a product from a common precursor. The
product gives color to the wheat kernel. Therefore, only
one dominant allele at either of the two loci is required to
generate the product. Thus,if a pure line wheat plant with
a colored kernel(genotype
= AABB) is crossed to plant with white kernels (genotype = aabb) and the resulting F1 plants are
selfed, a modification of the dihybrid 9:3:3:1 ratio will be produced. The following table provides a
biochemical expla- nation for the 15:1 ratio.
Genotype KernelPhenotype Enzyme Activities
9 AaBb Colored kernels Functional enzymes from both genes
3 Aabb Colored kernels Functional enzyme from the A gene pair
3 aaBb Colored kernels Functional enzyme from the B gene pair
1 aabb Colorless kernels non-functional enzymes produced at both genes

Ifwesumthethreedifferentgenotypesthatwillproduceacoloredkernelwecanachievea15:1ratio.Because
eitherofthegenescanprovidethewildtypephenotype,thisinteractioniscalledduplicategeneaction.

6. Epistasis
Sometimes the effect of gene interaction is that one gene masks (hides) the effect of another
gene at a different locus, a phenomenon known as Epistasis. Epistasis was first defined by the
English geneticist William Bateson in 1907.
Epistasisis the interaction of two or more genes to control a single phenotype.
Epistasis should no tbe confused with dominance, which refers to the interaction of genes at
the same locus (allelic genes). The cause might be that both genes produce enzymes which act in
the same bio- chemical pathway. In epistasis,
 The gene that does the masking is called the epistatic gene
 The gene whose effect is masked is a hypostaticgene Epistatic genes may be
recessive or dominant in their effects.

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 Example 1: 12:3:1 Ratio. Ex: Phenotype: Fruit Color in Squash
With this interaction, fruit color in squash is recessive to no color at one allelic pair. This
recessive allele must be expressed before the specific color allele at a second locus is expressed. At
the first gene white colored squash is dominant to colored squash, and the gene symbols are
W=white and w=colored. At the second gene yellow is dominant to green, and the symbols used are
G=yellow, g=green. If the dihybrid is selfed, three pheno-types are produced in a 12:3:1 ratio. The
following table explains how this ratio is obtained.
Genotype Fruit Color Gene Actions
WWGG White Dominant white allele negates effect of G allele
WWgg White Dominant white allele negates effect of G allele
wwGG Yellow Recessive color allele allows yellow allele expression
wwgg Green Recessive color allele allows green allele expression
Because the presence of the dominant W allele masks the effects of either the G or g allele, this type of inter
action is called Dominant epistasis.

Recessive epistasis
The presence of recessive alleles at one locus makes useless the presence of dominant alleles
at another locus. This happens if two enzymes are needed in series; "the chain breaks" if either link
fails.
Examples:coat color of Labrador retriever dogs, colorcoat in mice, Bombay phenomen on in human.
Example1: 9:3:4(9:7) Ratio. Example: coat color of
mice. In the example of epistasis, two of the genes
responsible for coat color are:
 Gene B –determining whether hair has bands:
 Dominant allele (B)-results in hair with bands and
Agouti coat (brown),
 Recessive allele (b)-homozygotes have no bands
and their coat is black.
 Gene C-affectingearlystepsofproduction
ofanenzyme responsible for pigment production:
 Dominant allele (C)-normalpigment production,
 Recessive allele (c)-homozygotes block all of the
pig- ment production and are albino.
A Black mouse BBCC is crossed with an Albino mouse
bbcc. All F1 off spring will be black mice Bb

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 Then if we cross mice from the F1 generation (BbCc × BbCc), the gametes
each mouse could pro- duce would be (BC, Bc, bC, and bc).
TheF2 would be=9 black: 3 brown:4 albino
In epistasis involving coat colour in mice, alleles at the gene Calter the
phenotypic effect of alleles at the gene B-cc mice will all be albinos irrespective
of their genotype at gene B! So, genotype cc at gene C is epistatic to gene B.

Example 2: Bombay phenomen on in human

There are many examples of epistasis. Epistatic interactions in human are
associated with the genes taking part in the regulation of ontogenesis and
immune system. One of the first to be described in humans is the Bombay
phenotype, involving the ABO blood group system. Individuals with this
phenotype lack a protein called the H antigen (genotype hh), which is used to
form A and B antigens. Even though such in- dividuals may have A or B genes,
they appear to be blood group O because they lack the H antigen.
Epistatic interactions make it difficult to identify locic onferring risk for complex
disorders.
To locate interacting loci involved in the genetic origins of complex diseases
requires collecting DNA samples from a large number of families where two or
more individuals have the disorder. Such large-scale studies are usually difficult
to conduct.
Epistatic gene or Masking gene action (12:3:1): also known as Epistatic gene
action.
The term “Epistatis” was first used by Bateson (1909). It is the interaction
between non-allelic genes in which one gene suppresses the expression of other
gene. A gene that hides or masks the expression of another non-allelic gene is called
as epistatic factor and the gene that is hidden or suppressed is said to be hypostatic.
This phenomenon of masking one gene by another non-allelic gene is known
as epistatis and is similar to dominance, except that it occurs between non-
allelomorphic genes, instead of comprising allelomorphic genes. Such a gene
interaction has been also named as masking gene action.

40
 In Cucurbita pepo, there are 3 types of fruit colour- (i) White (ii) Yellow and
(iii) Green. White is found dominant over yellow as well as green colour. When
yellow is crossed with green, yellow is found to be dominant. Here, the character
(colour of fruit) is governed by 2 pair of genes-
White x green → White dominant
Yellow x green→ Yellow dominant
Here white is dominant factor and yellow is hypostatic factor.
White x Yellow → White dominant.

If white dominant is represented by ‘W’ and its recessive by ‘Y’, both non-allelic factors
or genes may be represented as follows-

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 7. Genotype-environment interaction

The expression of a gene can be altered not only by other genes, but also by
the environment. Such environmental variables as light, temperature, and nutrition can
sharply affect the translation of a genotype into a phenotype.
For example, Siamese house cats have light color except on their ears, nose,
tail, and paws. The expression of gene responsible for this hair color pattern is
temperature-sensitive. The enzyme that cata- lyzes the production of dark pigment in
these cats is unable to work at the normal body temperature. In lowering of
temperature the enzyme is activated and can produce pigment that darkens the ears,
paws and tail. Thus, the phenotype of an organism is a function of the interactions of
genotype and environment.
Temperaturealso affects primrose flower color and fu rof Himalayan rabbits.
In buttercup plant (Ranunculus peltatus), leaves below water-level are finely
divided and those above water-level are broad, floating, photosynthetic leaf-like
leaves.

8. Expressivity
The degree of gene expression is called expressivity. The environment
influence on the expressiv- ity of the genotype may lead to problems incorrect
diagnosis and interpretation of pedigree, especially in an autosomal dominant
inheritance. Clinically, variable expressivity of the genotype is exhibited by mild,
mod- erate or severe form of the disease. Examples of dominant genes
expressivity are different degrees of cleft lip and cleft palate, bifurcation of
pendulous palate, different depth of cotiloid cavity, different degree of polydactyly.

One and the same trait may show in some organisms and be absent in others,
having the same gene. The proportion of individuals with a given genotype that
actually show the expected phenotypeis called the penetrance of the genotype
for a given population. For example, in humans blood groups inheri- tance in
system ABO has 100 % of penetrance, inheritance of epilepsy - 67%, diabetes
42
mellitus - 65% , congenital dislocation of the hip - 25%.
It is necessary to remember, that genes responsible for pathologic traits can
have different pene- trance and expressivity. Changing the environment
conditions one can influence on the development of a trait. For example, in an
autosomal recessive disorder called phenylketonuria (PKU), an enzyme phenyla-
lanine hydroxylase is deficient. This enzyme deficiency leads to accumulation of
phenylalanine in the blood (0,5-0,6 g/l instead of 0,003-0,04 g/l in the norm) and
its transformation into phenylpyruvic acid and other toxic metabolites. It causes
severe mental retardation, phenylketonuria (passing phenyl kitones in urine),
hypopigmentation, etc. Prescription of phenylalanine-free diet prevents the
development of mental retarda- tion in children with PKU.
9. Polygenic Inheritance
Polygenic inheritanceis a pattern responsible for many traits which are
governed by the cumulative effects of many genes. Polygenic traits are not
expressed as absolute or discrete characters. Polygenic traits are recognizable by
their expression as a gradation of small differences (a continuous variation). Hu-
man polygenic traits include height, weight, eye color, intelligence, skin color,
many forms of behavior. The biological role of polygeny is to increase of trait
stability.

In general, genes express themselves in all the individuals in which they are
present in the appropriate genotype, this is known as complete penetrance. But
many genes do not

produce the concerned phenotype in all the individuals which carry them in the
appropriate genotype. Such a situation is known as incomplete prenetrance. When
a gene is present in the appropriate genotype, the per cent of individuals in which
it is able to express itself is a measure of its penetrance. Thus the chlorophyll
deficiency gene in lima beans has a penetrance of 10%. Almost all the genes
showing incomplete penetrance exhibit incomplete expressivity as well. Thus
incomplete penetrance is in fact an expression of incomplete expressivity in that
some individuals show such a small expression of the gene that the trait is not
detectable.

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 10. Pleiotropy
Pleiotropy is the effect of a single gene on more than one characteristic. There are two kind
of plei- otropy: primary and secondary. In primary pleiotropy the gene shows own multiple
actions simultaneously. Examples of such conditions are osteogenesis imperfecta,
Marfan’s syndrome, Hartnup disease.
In osteogenesis imperfecta, the basic defect is in collagen synthesis. This accounts for
multiple sec- ondary effects like brittle bones, osteosclerosis, blue sclerae, etc. In another
condition called Marfan’s syn- drom primary defect lies in synthesis of elastic fibres. This
exhibits in pleiotropic manifestations such as skeletal, ocular and cardiovascular anomalies.
Marfan’s syndrome is recognized clinically in patients who have spindly digits, a high-arched
palate and in whom there is a tendency to lens dislocation. The main cardiac complications
are aortic dilatation and aortic valve regurgitation.
In Hartnup disease, mutation of gene causes disorder of tryptophan absorption in intestine
and tryptophan reabsorption in canaliculi of kidneys. The membranes of epythelial cells in
intestine and in canaliculi of kidneys are striked simultaneously.
In secondary pleiotropy, a primary phenotypic effect of gene leads to multiple secondary
effects developed one for other. Examples of such conditions are sickle-cell anaemia
,phenylketonuria, galactosemia.
The sickle cell anaemia is caused by gene (HbS), which is lethal in homozygous condition. It
was found that the β globin chain of HbS is different from HbA. Valine replaces glutamic acid
in the sixth position of β chain in HbS molecule. In heterozygotes under an oxic conditions,
sickle haemoglobin forms long, needle-like tactoids, which deform the red cell into the
characteristic sickle shape. The presence of large number of sickled cells in small blood
vessels impairs blood flow to the tissues causing hypoxia and local acidosis with further
sickling of red cells. This leads to anaemia, splenomegaly and weakness. The red cells tend
to cluster, that in one’s turn causes thrombosis, infarction and ischaemia. Sickle-celled
individuals suffer from a number of problems, all of which are pleiotropic effects of the sickle-
cell allele. In general one gene affects a single character. But many genes are known to affect
more than one character such genes are known as pleiotropic genes and the condition is
termed as pleiotrophy. An example of a pleiotropic gene in humanbeings is the recessive
genes which produces sickle cell anemia in these homozygotes. These gene causes changes
in two or more parts of characters, which are not related, then the gene is said to be
pleiotropic gene.
E.g. In cotton the Punjab hairy lint less gene lic produces seeds without lint. This gene
also causes incomplete lancinations of the leaf, reduction in boll size and fertility. In a plant a
44
 gene may produce red pigment in several organs, such as flowers stem, leaves but still it is not
correct to say that the gene is pleiotropic because the gene has only one general effect, the
production of pigment. A gene for wing may be vestigial gene can be called as bristle gene or a
fecundity gene. A number of other recessive genes produce marked and often detrimental
effect in human beings. They are referred as syndromes.

11. Isoalleles
These alleles, which are similar but on testing it proves to be a different one. Blood group A
person have three slightly different types such as IA1, IA2, IA3 which are similar but found to
be different after testing.
12. Pseudoalleles
The genes that are so closely linked can be separatable only by rare crossing over.
Such genes are called pseudoalleles.

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