INHERITANCE

TERMINOLOGY
Gene:
The basic unit of heredity, composed of DNA, RNA and protein, located on
chromosomes, found in pairs is called gene.
ALLELES:
Two contrasting or alternative form of genes are called alleles. These are represented
by Alphabet. Dominant allele by capital letter and recessive allele by small letter. e.g.
Allele for Tall height (T) and Dwarf height (t).
ALLELOMORPH:
Physical expression of allele is called allelomorph or character which is expressed due
to allele is called allelomorph e.g. Tall height, Dwarf height, yellow colour, green
colour, round shape, wrinkled shape etc.
GENOTYPE:
Chemical make up or chemical composition or chemical formula of a gene is called
genotype. PHENOTYPE Physical expression due to genotype is called phenotype e.g.
Red colour of flower and White colour of flower.
HOMOZYGOUS:
An individual with two identical form of alleles is called homozygous e.g. TT, tt, AA,
aa, RR, rr etc.
HETEROZYGOUS:
An individual with two non identical form of alleles for a character is called
heterozygous e.g. Tt, Rr, Yy etc.
DOMINANT:
In heterozygous condition one of the allele expresses its character and suppresses the
character of other allele, this is called dominant allele while its character is called
dominant character. Heterozygous T t All tall plants In this case allele T is dominant.
RECESSIVE:
In heterozygous condition, an allele whose character is suppressed by the dominant
allele is called recessive allele while its expression is called recessive trait or recessive
character. Recessive trait is expressed in homozygous recessive condition.

In this case allele t is recessive

F1-Generation:
Individuals which are produced as a result of
cross between first parent represent the F1-
generation or first filial generation.

F2-Generation:
Generation which is produced as a result of
self-cross between the individuals of F1-
generation is called F2 generation.

Hybridization:
Mixing of character in an individual from two parents having contrasting form of
characters is called hybridization.

Wild Type:
Commonly found character in a specie is called wild type.
Gametes:
Specialized haploid cells that take part in fertilization
Fertilization:
The fusion of gametes to form diploid zygote is called fertilization.
 Gregor Mendel (1822-1884)
Responsible for the Laws governing Inheritance of Traits.
How Mendel Got Started
 Mendel’s attraction to research was based on his love of nature.
 He was not only interested in plants, but also in meteorology and theories of
evolution.
 Mendel often wondered how plants obtained atypical characteristics
The Birth of the Idea: Heredity
 On a walk around the monastery, he found an atypical variety of an ornamental plant.
 He took it and planted it next to the typical variety.
 He grew their progeny side by side to see if there would be any approximation of the
traits passed on to the next generation.
 This experiment was “designed to support or to illustrate Lamarck’s views concerning
the influence of environment upon plants.”
 He found that the plants’ respective offspring retained the essential traits of the
parents, and therefore were not influenced by the environment.

Why did Mendel choose pea plant for his experiments?

Mendel choose pea plant for his experiments because of the following features of the
pea plants.
(a) Easy to grow
(b) Short lifespan
(c) Easily distinguishable characters
(d) Larger size of flower
(e) Self pollinated
(f) Can be artificially cross and they produce fertile hybrid.
(g) Can be grown in small area
What were the dominant and recessive characters in Mendel plants?

Mendel’s Laws of Heredity

From his studies, Mendel derived certain basic laws of heredity:
 Hereditary factors do not combine, but are passed intact;
 Each member of the parental generation transmits only half of its hereditary
factors to each offspring (with certain factors “dominant” over others);
 Different offspring of the same parents receive different sets of hereditary factors.
Mendel’s work became the foundation for modern genetics
 The impact of genetic theory is no longer questioned in anyone’s mind.
 Many diseases are known to be inherited
 And pedigrees are typically traced to determine the probability of passing along
a hereditary disease.
 Plants are now designed in laboratories to exhibit desired characteristics.
 The practical results of Mendel’s research has not only changed the way we
perceive the world, but also the way we live in it.
 Took seven years to prove laws of inheritance
 Mendel’s works became the foundation of modern genetics
 Later crossed mice and pea plants
 Noticed traits were inherited in certain numerical ratios
 Came up with idea of dominance and segregation of genes and set out to test it in
peas
 Love of nature encouraged his interest in research
 Also interested in meteorology and theories of evolution
Mendel’s work showed:
 Each parent contributes one factor of each trait shown in offspring.
 The two members of each pair of factors segregate from each other during gamete
formation.
 The blending theory of inheritance was discounted.
 Males and females contribute equally to the traits in their offspring.
 Acquired traits are not inherited.

PRINCIPLE OF SEGREGATION
LAW OF SEGREGATION

In a hybrid, contrasting factor or alleles or genes remain together without

producing effect on each other, these factors or alleles or genes become
separated during gametes formation so that each gamete receives single
factor or allele or gene.
 Mendel studied the inheritance of seed shape first.
 A cross involving only one trait is referred to as a monohybrid cross.
 Mendel crossed pure-breeding (also referred to as true-breeding) smooth-seeded
plants with a variety that had always produced wrinkled seeds (60 fertilizations
on 15 plants).
 All resulting seeds were smooth. The following year, Mendel planted these seeds
and allowed them to self-fertilize.
 He recovered 7324 seeds: 5474 smooth and 1850 wrinkled. To help with record
keeping, generations were labelled and numbered.
 The parental generation is denoted as the P1 generation. The offspring of the P1
generation are the F1 generation (first filial).
The self-fertilizing F1 generation produced the F2 generation (second filial).
Punnett square explaining the behaviour of the R and r alleles.
The inheritance of the R and r alleles explained in light of meiosis.
 This law is also referred to as law of purity of gametes.
 During the formation of male and female gametes (generally sperm and ova in
animals or pollen grains and ovule in plants), factors (alleles) responsible for a
particular character separate and are passed into different gametes.
 This process implies that the gametes are either pure for dominant alleles or for
recessive.
 These gametes can unite randomly in different possible combinations during
fertilization and produce the genotype for the traits of the progenies (Pierce
2017).
 In a zygote, the two members of an allele pair remain together without being
contaminated. This is known as law of segregation.

MONOHYBRID CROSS
Cross between two individuals which are different in one contrasting form
of character is called monohybrid cross.

Summary of Mendel’s Results

 The F1 offspring showed only one of the two parental traits, and always the same
trait.
 Results were always the same regardless of which parent donated the pollen (was
male).
 The trait not shown in the F1 reappeared in the F2 in about 25% of the offspring.
 Traits remained unchanged when passed to offspring: they did not blend in any
offspring but behaved as separate units.
 Reciprocal crosses showed each parent made an equal contribution to the
offspring.
Mendel’s Conclusions
 Evidence indicated factors could be hidden or unexpressed, these are the
recessive traits.
 The term phenotype refers to the outward appearance of a trait, while the term
genotype is used for the genetic makeup of an organism.
 Male and female contributed equally to the offsprings’ genetic makeup: therefore
the number of traits was probably two (the simplest solution).
 Upper case letters are traditionally used to denote dominant traits, lower case
letters for recessives.
Mendel reasoned that factors must segregate from each other during gamete
formation (remember, meiosis was not yet known!) to retain the number of traits
at 2. The Principle of Segregation proposes the separation of paired factors during
gamete formation, with each gamete receiving one or the other factor, usually not
both. Organisms carry two alleles for every trait. These traits separate during the
formation of gametes.

LAW OF INDEPENDENT ASSORTMENT

Definition:
"When two contrasting pairs of traits are followed together in the same cross,
alleles in each pair are inherited or assorted independent of each other.”
Mendel found this true for all the combination of the seven pairs of traits he used
in his pea crosses.
In a hybrid contrasting factors or alleles or genes of two different traits remain
together without affecting each other, these factors or alleles or genes are assorted
independent of each other during gametes formation, they express their characters
in the next generation.
Explanation:
Example 1:
Mendel crossed a pure-breeding yellow round plant (i.e. pea plant having round seeds
with yellow color) with a pure breeding green wrinkled plant (i.e. plant having seeds
which were wrinkled in shape & green in color). All the Fl were round & yellow which
showed that round seed shape is dominant over wrinkled seed shape. While yellow color
dominant over green. The Fl plants were allowed to self-pollinate. There were four
phenotypic classes which gave a 9:3:3:1. Two of the classes were the same as original
parent but two were new i.e. round green& wrinkled yellow. Thus two pairs of traits
seemed to be combining in the four ways that were possible. Each pair of alleles behaved
independently.

Dihybrid Cross
Cross between two individuals which are different in two contrasting form of
characters is called dihybrid cross.
It is also called inheritance of two traits or Law of Independent Assortment.

TEST CROSS AND BACK CROSS

The key difference between test cross and backcross is that the test cross is the
cross that occurs between a dominant phenotype and a recessive phenotype while
the backcross is the cross that occurs between generation F1 hybrid and one of the
two parents.
Understanding the difference between test cross and backcross is important in genetics
as they are two different types of crosses that are extremely helpful to identify the
genotype of an animal or a plant. The major objective of performing the test cross and
backcross is to discover the heterozygosity or homozygosity of individuals by
identifying the types of gametes that produce the dominant genotypes.
Consider the following example to understand both crosses and the difference between
test cross and backcross. Here, ‘T’ denotes the dominant trait of the tall pea plant, and
‘t’ denotes the recessive trait of the same phenotype. A tall pea plant hybrid can either
exist as homozygous (TT) or heterozygous (Tt) and the dwarf plant hybrid is always
homozygous recessive (tt).

TEST CROSS
The cross between phenotypic dominant individual with homozygous recessive
individual to determine the homozygosity or heterozygosity of the phenotypic dominant
individual is called test cross.
If the result of test cross is all individual with dominant characters then tested individual
would by homozygous and if the results are 50% individuals with dominant characters
and 50% with recessive characters then tested individual would be heterozygous. This
can be proved by making a cross between phenotypic tall plants with homozygous dwarf
plants.
 Complete Dominance Definition
In heterozygous individual, an allele whose character is
expressed is dominant while an allele whose character is
supressed by dominant allele is recessive allele.
Brown eyes, for example, is a trait that exhibits complete dominance: someone with a
copy of the gene for brown eyes will always have brown eyes. Blue eyes, on the other
hand, are recessive: if a copy of the gene for brown eyes is present, the blue-eyed gene
will be completely masked. Other dominant traits in humans include dark hair, dimples,
double-jointedness, and immunity to poison ivy.

Incomplete Dominance
German botanist Carl Correns (1864-1933) proposed the term “Incomplete
Dominance”. In the early 1900s, he researched a different plant than Mendel’s
famous pea plants i.e. “Mirabilis jalapa”, also known as the four o’clock flowers,
which contributed to the discovery of incomplete dominance that showed deviation
from Mendelian complete dominance.
DEFINITION: In a hybrid, when dominant allele fails to suppress the
character of recessive allele and phenotypic expression is the blending or
mixture of both the alleles then this phenomenon is known as incomplete
dominance.
 R1R2

R1 R2

R1 R1R1 R1R2
R1R1 R2R2
R1R2

R1R2 R2R2
R2
R1R2

INCOMPLETE DOMINANCE 4Ó CLOCK PLANT

 Two red alleles that are dominant in the homozygous red flower are denoted by
R1R1. Likewise, R2R2stands for the homozygous white flower.
 The above figure illustrates a test cross performed between red and white flower-
bearing plants that produce pink flowers on the progeny.
 The Punnet square demonstrates that heterozygous offspring with the
intermediate characteristic of pink hue is produced in the first filial generation or
F1 such that no allele predominates over the others.
 Their phenotype is intermediate between the two alleles instead of being
manifested in a fashion that would obscure the potential effects of the other allele.
 All of their heterozygous R1R2 progeny have pink blooms.
 For F2 generation, when these heterozygotes are cross-pollinated to observe
their corresponding traits, their offspring will be R1R1, R1R2 and R2R2 in the
ratio 1:2:1, i.e., some inherit two R1R1 alleles in some instances, two R2R2
alleles in others, and both R1R2 in certain cases.
 This ratio is equivalent to the Mendelian genotypic ratio.
 This clarifies that partial dominance does not necessarily mean absolute
blending since half of the F2 progenies still demonstrated the parental
homozygous alleles, although all of the offspring in the F1 generation were
determined to be heterozygous with the third phenotype.
 Other Examples of Incomplete Dominance:
 The light violet colour of eggplants is another example of incomplete dominance,
which results when deep purple eggplants are combined with white eggplants.
 An Andalusian chicken demonstrates incomplete dominance where a white
feathered male and a black feathered female chicken breed to produce blue and
tinged feathered offspring. This is due to the dilution of genes that reduce the
intensity of the effect of melanin, thereby lightening the colour of feathers in
offspring.
 Breeding of long and short-furred rabbits produces rabbits with varying lengths
of fur, usually medium-length furs.
 When a long-tailed dog is crossed with a short-tailed dog, a medium-sized tail is
produced in offspring. This demonstrates incomplete dominance.

Codominance
DEFINITION: Codominance, in genetics, phenomenon in which two alleles
(different versions of the same gene) are expressed to an equal degree within
an organism. As a result, traits associated with each allele are displayed
simultaneously OR
In heterozygous condition when character of both the alleles are expressed
equally not in blending or mixture and appear separately then this
phenomenon is known as co-dominance.
 An example of codominance in cattle is the roan coat.
 Roan cattle express alleles for both red hair and white hair, resulting in a coat with
both red and white hairs.
 Another example of codominance is seen in
the MN blood group system of humans.
 MN blood type is governed by two alleles,
M and N. I
 Individuals who are homozygous for the M
allele have a surface molecule (called the M
antigen) on their red blood cells. Similarly,
those homozygous for the N allele have the
N antigen on their red blood cells.

Basis for Incomplete dominance Co-dominance

Comparison
Definition Incomplete dominance is a Co-dominance is the
mechanism of dominance in mechanism of dominance
heterozygotes, where the seen in some alleles where
dominant allele does not both alleles of a gene in a
entirely overcome the heterozygote lack the
phenotypic expression of the dominant and recessive
recessive allele, and there relationship, and each allele
occurs an intermediate is capable of some degree of
phenotype in the phenotypic expression.
heterozygote.

Phenotype of The resulting phenotype of Both the homozygous

the Hybrid the hybrid is a mix or blend phenotypes are expressed
or intermediate of the two independently.
homozygotes.

Expression of In incomplete dominance, In co-dominance, the effect

alleles the effect of one of the two of both the alleles is equally
alleles is more conspicuous conspicuous.
than the other.
 The effect of the two Both the parent allele will
parental alleles is an produce their effect
intermediate on the independently.
offspring.

Phenotype The resulting phenotype is a The resulting phenotype is

novel one by the mixing of not a novel one as the two
the two phenotypes from parental phenotypes do not
both the parents. mix together.

None of the parental Both parental phenotypes

phenotypes can be observed can be observed in the
in the hybrid. hybrid.

The new phenotype doesn’t The new phenotype is

have its’ own allele. expressed as a combination
of two phenotypes of two
alleles.

Dominance One of the two alleles is Neither of the alleles acts as

incompletely dominant over dominant or recessive over
the other. the other.

Quantitative Incomplete dominance Co-dominance only allows

approach allows the quantitative the quantitative analysis of
analysis of both the gene expression.
incompletely dominant
alleles.

Examples Examples of incomplete Examples of co-dominance

dominance are the pink include the blood type in
flowers of Mirabilis humans and livestock with
jalapa and the hair structure spotted colours on their hair
in humans. or feathers.
 MULTIPLE ALLELES
More than two form of alleles that control one specific trait are called multiple
alleles.
One of the best example of multiple allele is Blood Group in man. Human blood
is divided into four groups on the basis of two types of antigens which are present at the
surface of RBCs i.e. Antigen A and Antigen B. A person which has antigen A on the
RBCs has blood group A, A person which has antigen B on the RBCs has blood group
B. A person which has both antigen A and B has blood group AB and a person with no
antigen on the RBCs has blood group O.
Chemically these antigens are muco-polysaccharides or glycoproteins. The
formation of these antigens is controlled by a gene which has three alleles i.e. allele 
IA  dominant allele that produce antigen A allele IB  controls the formation of
antigen B and allele i which does not produce any antigen. A person has combination
of any two alleles as shown in the given table.
 The A antigen and B antigen can violently react with anti-A and anti-B antibodies
respectively leading to clumping of RBCs and immediate blood clot formation. This
type of immune reaction causes a severe haemolytic reaction and there is a very high
chance that a person will die if left untreated. Hence, ABO is considered one of the
most important blood group systems, and human blood is always first classified
according to the ABO type before transfusion or use for any medical or research
purpose.

Blood Type Antigens (Agglutinogens) Antibodies (Agglutinins)

on Red Blood Cells in Plasma

A A Anti-B

B B Anti-A

AB A&B None

O Neither A or B Anti-A & Anti-B

What is Blood Grouping?
 The process of classifying blood into several blood groups based on the
presence and absence of blood group antigens in the surface (membrane) of
the RBCs and antibodies on the plasma is called blood grouping. Blood
grouping is very important to prevent transfusion reactions and other disorders
related to blood grouping antigens-antibodies reactions.
 In clinical and diagnostic labs, blood grouping is done using the antigen-
antibody reaction method, and blood is mostly classified into ABO and Rh
systems.
Common Blood Group Systems
Based on glycoproteins, lipoproteins, carbohydrates, and other proteins present several
methods of typing the blood into different (43 different schemes) blood types have
been discovered and recognized. However, all of them are not significant and studied.
Some of the common blood group systems recognized for their clinical relevance are
listed below.
Some of the common blood group systems recognized for their clinical relevance are
listed below.
1. The ABO blood group system: It is the oldest and the most important human
blood group system which divides the blood into A, B, O, and AB types.
(Details are described later below in a separate section.)
2. The Rh system: It is another most important human blood group system which
divides the blood into Rh+ and Rh- types.
3. The MNSs blood group system: It is one of the oldest systems discovered in
1927. The classification system is based on the five most important antigens M,
N, S, s, and U antigens; although 50 different antigens have been identified in
this system. The blood group antigens are encoded by the Glycophorin A and
Glycophorin B genes located on chromosome 4. The antibodies against these
antigens are found in blood plasma but these are generally clinically
insignificant.
4. The P blood group system: It is a method of classifying human blood into
different blood types based on the P-type carbohydrate antigens. It was
identified in 1927 by Landsteiner and Levine. The P-type blood antigens are
controlled by the B3GALNT1 and the A4GALT genes. There are 5 antigens in
this system, namely P1, P2, P1K P2K, and P antigens, out of which, P, P1, and
PK antigens are important and can cause transfusion reaction and
Erythroblastosis foetalisis.
5. The Lutheran blood group system: It is another system of blood group where
the human blood is classified on the basis of the 19 Lutheran antigens present in
the cell membrane of RBCs. These 19 antigens are encoded by variants of
the BCAM gene and the system is based on the two co-dominant alleles, namely
Lua and Lub. Phenotypically, the blood is classified into Lu (a+ b+), Lu (a- b-),
Lu (a- b+), and Lu (a+ b-) blood types. This antigen and corresponding antibody
system are rarely found to be associated with transfusion reaction and
Erythroblastosis foetalisis.
6. The Kell blood group system: It is the human blood group system based on the
Kell antigens present encoded by the KEL gene. It was discovered in 1946.
After the ABO and Rh systems, the Kell system is the third most important type
of blood group system which can cause clinically significant transfusion
reaction and Erythroblastosis foetalisis. In total, 25 different Kell antigens are
known, but only 6 of them (K, k, Kpa, Kpb, Jsa, and Jsb) are clinically
significant.
7. The Lewis blood group system: It is the human blood group system based on
the Lewis (Le) glycoprotein antigens encoded by the FUT3 (Lewis gene) gene
and the FUT2 (Secretor) gene in chromosome 3. There are two major Le
antigens Lea and Leb antigens with three major phenotypes: Le (a+ b-), Le (a-
b+), and Le (a- b-).
 8. The Duffy blood group system: It is the human blood type first described in
1950, which is based on the Fy glycoprotein blood antigens present in the cell
membrane of the RBCs. The Fy antigens are encoded by the DARC gene. Four
Fy phenotypes viz. Fya+ b+, Fya+ b-, Fya- b+, and Fya- b- are major antigens of this
system. These antigens and their corresponding antibodies are rarely associated
with transfusion reactions and Erythroblastosis foetalisis.
9. The Kidd blood group system: It is the human blood type based on the Kidd
(Jk) glycoprotein antigens on the surface of the RBCs. This system was first
identified in 1951. There are three major antigens named Jka, Jkb, and Jk3
encoded by the SLC14A1 gene found in chromosome 18. The Kidd antibodies
can cause a severe haemolytic transfusion reaction.
10.The Yt blood group system: Also known as the Cartwright blood group
system, is a human blood type system based on the Yt antigens on the surface of
RBCs. There are two major Yt antigens known, the Yta and Ytb antigens
encoded by the ACHE gene. Antibodies of the Yt antigens are associated with
delayed-type transfusion reactions.
11.The Xg blood group system: It is a blood type based on the Xg protein
antigens in the cell membrane of RBCs and corresponding antibodies on the
plasma. It was first described in 1962. This system contains two major antigens;
Xg(a) and CD99. The antigens of this system are encoded by the PBDX gene in
the X chromosome. This blood type is not associated with any transfusion
reaction.
12.The Dombrock blood group system: It is a blood type based on the Do
antigens in the cell membrane of RBCs and corresponding antibodies. It was
first identified in 1965. Currently, five major antigens, Doa, Dob, Gya, Hy, and
Joa, encoded by the ART4 gene are determinants of this blood type system.
Severe transfusion reactions associated with Dombrock antigen-antibody
reaction have been reported.

The Rh Blood Group System

 It is another most important human blood group system discovered by Karl
Landsteiner and A.S. Weiner in 1940. They identified Rh antigens in the membrane
of human RBCs and classified human blood into Rh +ve and Rh –ve types. (Rh is
named after the Rhesus monkeys because their blood was used in determining the
Rh antigens in human blood RBCs).
 Since the development of the Rh system 49 different Rh antigens (also called Rh
factors) have been discovered. And among them, only five antigens, D, C, c, E, and e
antigens, are clinically significant. Among them, Rh (D) antigen is highly
 immunogenic. It is the most studied and tested Rh antigen as it is associated with
haemolytic reactions. These antigens are present in the transmembrane proteins,
mainly in ion channels. These antigens are encoded by the RHD gene and
the RHCE gene.
 The blood of a person having Rh (D) antigen in their RBCs is classified as Rh +ve
type blood and the blood lacking Rh (D) antigens in their RBCs is classified as Rh –
ve type blood. A person having Rh (D) antigens in their RBCs lacks the anti-D Rh
antibodies in their blood plasma, but once the Rh (D) antigen is introduced into the
bloodstream lacking Rh (D) antigen, the body synthesizes anti-D Rh antibodies.
 The anti-D, anti-C, anti-c, and anti-e antibodies can cause a haemolytic transfusion
reaction. Among them, anti-D is the most potent and causes a fatal immune reaction,
hence the human blood is always typed into Rh types before transfusion or before
other purposes.

Allele Genotype Phenotype Blood

Group

RH RH RH RH RH
Homozygous antigen Posistive
Dominant
RH Rh RH RH
Heterozygous antigen Positive
Dominant
Rh Rh Rh No RH RH
Homozygous antigen Negative
Recessive

Erythroblastosis Foetalisis
 Erythroblastosis foetalisis is a haemolytic disorder of foetuses and neonates
mainly due to Rh (D) incompatibility between the mother and the developing
foetus inside her womb. It results in the destruction of the RBCs of the developing
foetus and neonates causing haemolytic anaemia in the foetus and the neonates.
 The foetalis RBCs can freely move across the placenta and enter the maternal
circulation during foetalis development (pregnancy) and child delivery. If the
foetus has Rh +ve blood and the mother has Rh –ve blood, then the Rh antigens
in the child can trigger an immune reaction in the mother’s circulation. The
 infant’s blood may enter the mother’s circulation during delivery and also result
in a similar immune reaction. Upon the introduction of the foetus’s Rh antigens,
the mother’s body begins to synthesize Rh antibodies. The synthesized Rh
antibodies will then attack the foetus’s RBCs and cause the destruction of the
foetus’s RBCs leading to haemolytic anaemia in the foetus.
 The Rh incompatibility between the mother and her first child may be mild and
there is rarely serious harm to the foetus and newborns. However, if there is
incompatibility during the second pregnancy also, then the developing infant has
a higher chance to suffer from severe Erythroblastosis (destruction of RBCs).
 Erythroblastosis foetalisis can also occur due to ABO incompatibility, Kell
incompatibility, Kidd incompatibility, Duffy incompatibility, and other blood
antigen incompatibility.
 This condition can be diagnosed and prevented. Maternal blood typing and
antibody screening, antibody level measurement in pregnant mother’s
blood, cell-free foetalis DNA screening, ultrasound of the foetus, a test of
amniotic fluids, foetalis middle cerebral blood flow measurement, foetalis
umbilical cord blood testing, RBC count in newborns, bilirubin test in
infants, antibodies and Rh factor study in infants, etc. are followed in the
medical lab for diagnosis of this condition.
 Treatment options: include foetalis blood transfusion, hydrating infants by
IV fluids, intravenous immunoglobulin (IVIG) antibody therapy, etc. can be
used to treat foetuses and infants suffering from this haemolytic disorder.
 Rh immunoglobulin (Rhig) also called RhoGAM is a preventive medication
to prevent this disorder. This medication prevents from the development of
Rh antibodies in the mother’s body.
 Method to Differentiate Human Blood into ABO and Rh types
Human blood is routinely typed into ABO and Rh types for various medical
purposes. The classification is based on the agglutination reaction principle. The
agglutination reaction is an antigen-antibody reaction where an antigen reacts with
its specific antibody and produces a visible clump under specific temperature and pH
conditions. Human blood contains different blood group antigens in the membrane
of RBCs and corresponding antibodies (agglutinins) in the plasma. When these
antigens react with their corresponding agglutinins a visible clump is formed. This
reaction is used to differentiate human blood into different ABO and Rh types in a
lab.
 There are several methods available to group human blood like the slide method,
tube method, microplate method, and automated method.

Clumping on a Mixture Blood

of blood and Type
Anti Anti Anti-
-A -B D
√ √ A+
√ A-
√ √ B+
√ B-
√ √ √ AB+
√ √ AB-
√ O+
O-

Significances of Blood Grouping

 It helps to identify the blood type of an individual so that they can manage
blood during medical needs.
 Blood grouping helps to prevent the haemolytic transfusion reaction during
blood transfusion and/or organ transplantation.
 Blood grouping is also used in forensic science for the identification of persons.
 It is used in medicine and genetics to determine the blood type of a foetus and
prevent Erythroblastosis foetalisis or other complications during pregnancy.
Blood Compatibility
 Blood compatibility means the ability of blood from different sources to co-exist and
function properly without agglutination. Not all human blood are alike and the blood
of one person may not be compatible with the blood of another person. Some blood
group antigens and their corresponding agglutinins can violently react resulting in a
severe haemolytic agglutination reaction which can be fatal. So, blood compatibility
must be checked prior to blood or organ transplantation.
 Mainly ABO and Rh antigens and antibodies result in severe transfusion reactions,
hence blood is primarily classified based on ABO and Rh system. The blood of the
donor and the receiver is
then checked for Blood Group of Possible Receiver
compatibility, also called Blood A A B B AB AB O O –
cross-matching, prior to Group of + – + – + – +
transfusion. Donor A+ √ √
 The Rh +ve blood group A– √ √ √ √
is compatible with B+ √ √
another Rh +ve blood B– √ √ √ √
only, and hence can’t be AB + √
transfused to a person AB – √ √
with Rh –ve blood type. O+ √ √ √ √
Similarly, a person with O– √ √ √ √ √ √ √ √
A-type blood can’t receive blood from a person with B-type blood, and vice-versa. A
person with O-type blood can only receive O-type blood.
 However, a person with AB-type blood can receive the blood of any type.

UNIVERSAL DONAR AND RECIPIENT

 The O -ve type blood is called the universal donor, as O -ve blood group can be
donated to a person with any type of blood.
 The AB +ve type blood is called the universal acceptor as a person with AB +ve
type blood can receive the blood of any type.

POLY GENIC INHERITANCE

Polygenic inheritance is defined as some phenotypic character
determined by the additive effect of more than one gene on a single
character.
 Polygenic inheritance is commonly known as quantitative inheritance and
multiple gene inheritance.
 Height, skin pigmentation, eye colour, hair colour, and milk and egg production
are phenotypic characteristics present in plants and animals. Many traits and
phenotypic characters are inherited by many alleles present in different loci,
known as polygenic inheritance.
 It is the type of inheritance controlled by more than one gene where the
dominant alleles have a commutative effect, with each dominant allele
expressing a part or unit of the trait.
 The combined effect of many genes shows a significant effect, but a single gene
has little effect on the phenotype.
  The full trait is shown if all dominant alleles are present in it.
 The Father of phenotypic inheritance is Koleronter, and Nilson-Ehle and East
discover polygenic inheritance in kernel color in wheat.
 A gene that exerts a bit of effect on a phenotype along with another gene refers
to polygene.

Two types of genes and alleles are involved in polygenic inheritance controlled:

1. Contributing alleles: that contribute to continuous variation.

2. Non-contributing alleles: alleles or genes which do not contribute to
continuous variation.

Characteristics of polygenic inheritance

 Each gene has a too-small effect, which is why it is difficult to detect, but their
combined effect is significant and easy to detect.
 Each allele has an additive and cumulative effect.
 The equal effect is produced by multiple genes.
 One phenotypic character or particular trait is controlled by more than one gene.
All such genes are non-allelic.
 It is difficult to predict phenotype due to the complex pattern of polygenic
inheritance.
 Polygenic inheritance is statistically analyzed in order to estimate population
parameters.
 Polygenic inheritance is occurred by the continuous variation of the phenotype
of a trait.
 Environmental factors and the combined effect of many genes produced
continuous variation.
 Each gene has a certain amount of effect, and the more the number of dominant
genes, more the pronounced its characteristics. so, quantitative inheritance is
also called polygenic inheritance.
 The trait becomes much more pronounced due to the addition of several alleles.
 Polygenic inheritance is also called cumulative inheritance because the
phenotype depends upon the number of dominant alleles present.
 Monogenic inheritance follows Mendelian inheritance, the expression may be
predicted according to the phenotypic ratio, but polygenic inheritance doesn’t
follow the Mendelian ratio.
 Polygenic inheritance is different from multiple alleles. For example,
human blood groups as multiple alleles. Here, three or more alleles are
present on the same locus. The ABO blood grouping system is controlled by
three alleles.

For F2 generation, the frequency of different types of phenotypes is always bell-

shaped.
Examples of Polygenic Inheritance in plants

Kernel color in wheat, cob length of maize, and length of the corolla in tobacco are
examples of polygenic inheritance in plants.

Kernel color of the wheat

 Nilsson-Ehle (1908) gave the first experimental evidence of the kernel color of
wheat.
 Kernel color of wheat is determined by 3 independently assorted pairs of alleles.
 The dark red wheat kernel has 3 dominant alleles AA BB CC and the white kernel
have recessive allele’s i.e. aa bb cc. These alleles crossed in the F 1 generation
produce intermediated red color have (Aa Bb Cc).
 In the F2 generation, 1 white and 63 red with varying shades are produced.

It was found that all the six alleles’ code for red pigment (AABBCC), colour of
grain will be dark red. When all six alleles do not produce red pigment (aabbcc) the
colour of grain will be white. When a group has one allele for red light (Aabbcc or
aaBbcc or aabbCc) the colour of grain will be light pink. If plant contain two
alleles of red pigment (AaBbcc or aaBbCc or AabbCc) the colour of grain will be
pink. If the plant has three pigment of red colour (AaBbCc or AABbcc or AabbCC)
will be light red. In the same way for alleles colour dose (AABBcc or aaBBCC or
AAbbCC) will express red and five dominant allele dose (AABBCc or AABbCC
or AaBBCC) will produce moderately dark red grains. It showed that phenotype of
grain colour depends upon the presence of colour producing alleles i.e. A. B, and
C. The expression of these genes are also influenced by environmental factor like
light, Water and nutrients.
F-2 GENERATION
 EXAMPLES OF POLYGENIC INHERITANCE IN MAN
The skin color of human
 The inheritance of color of skin in humans study by Devonport in 1913.
 It is controlled by around 60 loci.
 Human skin color is regulated by three pairs of genes.
GENE A: It is responsible for permanent survival, proliferation and migration of
melanocytes.
GENE B: is responsible to synthesize tyrosinase, involve in the conversion of
tyrosine into melanin. It means that it is involved in the synthesis of melanin.
GENE C: is responsible for determination of either proper black or dark brown
type of melanin i.e. phenomelanin will produce.
 When a Negro black (AA BB CC) phenotype is crossed with white (aa bb cc)
phenotype, an intermediate phenotype (Aa Bb Cc) is produced.
 In the F2 generation, (Aa Bb Cc× Aa Bb Cc) will produce different skin colours
(i.e., very dark to light). Skin color depends upon melanin pigment. A Negro
black (with all dominant alleles (AA BB CC) would have the highest amount of
melanin, and light color (aa bb cc) has a negligible amount of melanin. The
ratio of skin color is following:
Negro black (1): vary dark (6): dark brown (15): intermediate (20): fair light
(15): light (1).
 Human height
 Human height is a polygenic trait determined by three genes that have six
alleles (3 dominant alleles and three recessive alleles).
 A tall person has all dominant alleles; however, a short person has all recessive
alleles.
 Human height follows a normal distribution curve (bell-shaped) wherein one
end of the curve represents the tall population, and another end represents the
small or short population, whereas the middle portion of the curve represents
the average height population.
 A recent study concluded over 400 genes are linked to variation in height.

EPISTASIS
Meaning: Epistasis is means, when more than one gene works together to
produce a phenotype that is observable.
DEFINITION: Effect of one gene present on a locus of a chromosome to the
other gene present on different locus on another chromosome is Epistasis.
The gene which interferes and masks the phenotype of the non-locus gene is epistatic
gene or interfering gene and the gene whose expression is masked by epistatic gene
is hypostatic gene.
Some genes interact with each other to produce different phenotypes. It’s not just
dominant/recessive anymore. That monohybrid crosses produces a 3:1 phenotypic
ratio, a dihybrid cross creates a phenotypic ratio of 9:3:3:1, and the trihybrid
cross 27:9:9:9:3:3:3:1. Some genes though, might dominate and block out other genes,
while some need to work in tandem to produce a certain phenotype. There are 6
possible combinations for interactions of two genes (dihybrid crosses) instead of the
9:3:3:1 in standard Mendelian genetics. All of these ratios are assumed to be offspring
of heterozygous parents (AaBb x AaBb).
Gene interactions producing two different phenotypes:
3. Dominant epistasis (12:3:1 phenotype ratio)

A dominant allele at one locus masks or reduces the allele at a second locus. This is in
essence the opposite of recessive epistasis. A dominant allele is the culprit instead of
the recessive allele. In foxglove flower color a wild-type allele d produces light red
pigment. The mutant allele D produces dark red pigment. The D or d works on a
precursor to produce a different pigment. Wild-type allele w distributes color
throughout the flower, and the mutant allele W restricts pigment to the throat of the
flower. In effect, W asserts an epistatic effect by restricting flower color.
White flowers:
DW Dark red pigment (D) only deposited to throat spots.
dW light red pigment (d) only deposited to throat spots.
Red flower:
Dw Dark red pigment not restricted by W.
Light red flower:
dw light red pigment not restricted in the flower (by W the dominant epistatic allele).
 2. Recessive epistasis (9:3:4 phenotype ratio):
Recessive epistasis occurs when a recessive allele at only one locus (only one allele,
and the recessive one at that, affects the other allele’s function), masks or reduces the
expression of the second allele.
Labrador retriever coat color is a form of recessive epistasis. The three phenotypes
produced are black labs (BE), chocolate labs (bE), and golden labs (Be or be). The B
allele is for black eumelanin pigmentation, the b allele is for brown eumelanin
pigmentation, a lesser intensity of eumelalnin, E deposits the eumelanin, and e does no
deposition of eumelanin. As we see here, B and b perform a similar protein, but in
different amounts. b has less intensity of eumelanin than B.
We get:
56.3% black labs (BE) strong eumelanin and deposition
18.7% chocolate labs (bE) weak (slightly masked) eumelanin and deposition
25.0% golden labs (Be or be) strong or weak eumelanin but no
deposition into coat.
 SEX DETERMINATION
• Establishment of male and female individuals or male and female organs of an individual is
called sex determination.
• Mechanism of sex determination-3 types
 Environmental
 Chromosomal
 Genic
Male and female individuals differ from each other in respect to either the number or morphology of
the homologues of one chromosome pair, referred to as sex chromosome or allosome – X & Y
X chromosome found in both males (only one) and females (has two X chr.)
Y chromosome occurs only in one of two sexes of a species.
Chromosomes whose number and morphology do not differ between males and females of a species
are called autosomes.
SEX DETERMINATION IN MAN
In man there are 23 pairs of chromosomes i.e. 22 pairs of autosomes & one pair of sex chromosomes,
Female produces—only one type of eggs having 22 autosomes & one X chromosome, While male
produces 2 types of sperms: One having 22 autosomes and one X chromosomes but other with
22 autosomes one Y chromosomes, Again it is the type of sperm that determines the sex of the off
spring.
GRASSHOPPER:
In some grasshoppers one sex chromosome may be missing entirely.
Males have 23 chromosomes but females have 24, so half the sperms have 11 chromosomes & half
have 12. All the eggs have 12. The sex of the young grasshopper depends on the kind of sperm that
fertilizes the egg.

• Females possess two X- chromosomes (XX) -homogametic females.

• Males possess only one X-chromosome -heterogametic males.
• O or zero in X O chromosome →absence of another X-chromosome.
• Found in grasshoppers, Protenor and many other insects, esp. those belonging to Orthoptera.
• If X carrying ovum fertilized by X carrying sperm -zygote develop into a female.
• If sperm containing no chromosome unites with ovum -zygote formed is XO- develop into male.
• Maternal gametes always contain an X chromosome - sex of offspring depends on whether a sex
chromosome is present in male gamete.
•

DROSOPHILA
• In drosophila female flies produce eggs which are of only type and receive one X chromosome.
However male flies produce two types of sperms. One type contains 'X' chromosome & the other
type contains the Y chromosomes. After fertilization the zygote may be either XX or XY
depending on which type of sperm fertilized the egg. An XX zygote develops into male and XY
develops into female & XY zygote develops into a male. In Drosophila it is the sperm of male
that determines the sex of the offspring.

ZW FEMALE, ZZ MALE
Occur in certain insects & vertebrates like amphibians, reptiles, birds & plants
Female have one Z and one W chromosome- produce two types’ eggs.
Male - two homomorphic Z chromosomes.
Sex of offsprings depends upon the kind of egg
Z bearing egg produce male & W bearing egg produce female.

Occur in certain insects & vertebrates like amphibians, reptiles, birds & plants
Female have one Z and one W chromosome- produce two types’ eggs.
Male - two homomorphic Z chromosomes.
SEX LINNKED INHERITANCE IN DROSPHILA:
T.H. Morgan (1910) performed various breeding experiments with wild type red-eyed
drosophila flies, He noticed a white eyed mutant. This was male & turned out to be a true breeding
strain of white eyed flies. He crossed this white eyed male with true red female. The F1 & F2
population followed the simple Mendelian ratio. But when white eyed female was crossed with red-
eyed male, the results were not similar.
To examine the details of various crosses made by T.H, Morgan, we are giving their representation
in figures. We have represented the R red-eyed & r for recessive white-eyed flies.

Cross-I:
R R
When red-eyed female (X X ) is crossed with white eyed male the generation shows
l
all red flies, female as well as male.
The generation shows red-eyed & white-eyed flies in ratio of (all females are red, but
male red & white eyed). Again female flies were of two types. One producing only
red-type offspring & another producing half red eyed & other half white red
offspring.
Cross - II :
When red-eyed male (XR Y) is crossed with white-eyed female (Xr Xr) results are different from
cross-I. In Fl both types of flies were produced that is red-eyed & white eyed. More over all the red-
eyed are females & all the white eyed males, In F2 generation again red and white-eyed appeared in
equal ratio & very interesting case is that half of the male were red eyed & half white-eyed. Similar
is the case with female flies.
T.H. Morgan on the basis of results obtained from the experiments concluded the eye color in
drosophila is present in X chromosomes, The Y chromosome carries no alleles for eye color.
 Sex linked Inheritance in Man
Genes which are present on sex chromosomes are called sex linked genes while their
inheritance from parents to the offspring's is called sex linked inheritance.
X linked recessive traits:
Any genetic trait which is transmitted through sex-chromosome (X chromosome) is called sex-
linked inheritance, such as:
When a gene is present on the X chromosome, but not on the Y chromosome, it is said to be X-
linked. X-linked genes have different inheritance patterns than genes on non-sex chromosomes
(autosomes). That's because these genes are present in different copy numbers in males and females.
Red-green colorblindness.
Haemophilia (or bleeder's disease)
Premature balding etc.
INHERITANCE OF COLOUR BLINDNESS
Retina in human eye has two types of cells i.e. Rod cells and Cone Cells. Rod cells are
stimulated by dim light while cones cells are stimulated in intense light. These cone cells are
responsible for colour distinction. There are three types of cone cells for trichromatic vision
located in the retina. Each cone is sensitive to only one of these primary-colours i.e. red, green
and blue. Each type of cone cell has specific light absorbing proteins called opsins. These
pigments proteins are produced by stimulation of specific genes. The genes for red and green
are located on X chromosome whereas the gene for blue is located at autosome chromosome
number 7. Mutation in these genes produce their recessive alleles that cause colour blindness in
different forms.
Colour blindness, also known as colour vision deficiency, is a visual impairment that affects a
person's ability to perceive certain colours accurately. There are several types of colour
blindness, with the most common ones being:
1. Deuteranomaly (Red-Green): This is the most common type of colour blindness, where
individuals have difficulty distinguishing between red and green colours. It is a form of
red-green colour vision deficiency.
2. Protanomaly (Red-Green): Similar to deuteranomaly, protanomaly also affects the
perception of red and green colours, but in this case, individuals have a reduced
sensitivity to red light.
3. Tritanomaly (Blue-Yellow): This type of colour blindness affects the ability to
differentiate between blue and yellow colours. It is less common than red-green colour
blindness.
 4. Monochromacy (Complete Colour Blindness): Individuals with monochromacy are
unable to perceive any colours at all and see the world in shades of gray. There are
different subtypes of monochromacy, including rod Monochromacy and cone
Monochromacy.
5. Dichromacy: Dichromacy involves a reduced sensitivity to one of the three primary
colours. The most common types are deuteranopia (lack of green receptors), protanopia
(lack of red receptors), and tritanopia (lack of blue receptors).
It's important to note that colour blindness is more common in males than females, and it is
often a genetic condition. While there is no cure for colour blindness, certain tools and
technologies can assist individuals in their daily lives, such as colour correction glasses or
special software.

Y
(2) Haemophilia:
The "X" chromosome contains many different genes. One of them is a gene that codes for the
production of a protein needed for blood clotting called factor VIll. There are two alleles of this
gene, the dominant gene (H) produces normal factor VIll and the recessive allele (h) codes for a
conversion of factor VIll. Without this factor, blood does not clot properly, a condition called
Haemophilia. Bleeding occurs into joints and other parts of the body, which can be extremely
painful and eventually disabling. Haemophilia is treated by giving the person factor VIll
throughout their lives. So long a person has at least one "H" allele in their cells, they will make
normal factor VIll and will not be a Haemophilia. Only men suffer from Haemophilia. The
women may be heterozygous for haemophilic gene (carrier). Look at the genotype given below.
XHXH- Normal woman
XHXh — Normal woman (carriers)
XhXh _Would not develop (lethal).
XHY — Normal man
XhY- Haemophiliac man
In theory it is possible for a couple to have a daughter with a genotype X h xh. But this is so
damaging that such zygote (Xh xh) never develops. So no babies with the genotype (Xh Xh) are
ever born.
Explanation:
If a normal man (XHY) marries a carrier female (XH Xh), their daughters will be normal, one
being homozygous and the other will be heterozygous, because they receive one "X" from their
father and one X from their mother. But half of the son will be normal and half of the son will
be haemophiliac, because, they receive Y chromosome from their father and "X" chromosome
form their mother. Since one "X" of the mother has dominant gene (H) for factor VIll and
other "X" has recessive gene (h), which does not code for factor VIII.
Note: Haemophilacs can be given regular doses of factor VIII, which enables them to live
normal lives. The factorVIll is taken from human blood given by blood donors. Factor VIll
may be made by genetic engineering.

Y-Linked Genes (Holandric inheritance)

In humans, the Y chromosome has been studied and is known to contain approximately 200 genes
which provide instructions for making proteins. Because only males have the Y chromosome, the
genes on this chromosome tend to be involved in male sex determination and development. Sex is
determined by the SRY gene, which is the sex-determining region of the Y-chromosome.
 Structure of the Y-Chromosome in Humans Other genes on the Y chromosome are important
for enabling men to father biological children (male fertility).
 Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal
regions are present on both sex chromosomes.
 As a result, men and women each have two functional copies of these genes.
 Many genes in the pseudoautosomal regions are essential for normal development.
 Although the Y-chromosome is sex-determining in humans and some other species, not all genes
that play a role in sex determination are Y-linked.
Characteristics of Y Linked Inheritance
 It occurs only in males
 It usually appears in all sons of males who are exhibiting that trait
 Is absent from daughters of trait carriers; whereas the daughters are normal phenotypically
and do not have affected offspring.
 Moreover, this trait occurs rarely and has not been wholly resolved. Y-chromosome deletions
are a frequent genetic cause of male infertility.
Y-linked traits, while few in number, do exist.
 For instance, the Y-linked trait of “webbed toes” causes a web-like connection between second
and third toes,
 “Porcupine man” occurs when the skin thickens and gradually becomes darker, scaly, rough,
and with bristle-like outgrowths.
 Hypertrichosis growth of hairs in the edges of pinna.
 Since Y-linked inheritance involves the Y chromosome, Y-linked inheritance is passed on
from father to son.
 Y-linked traits never occur in females, and occur in all male descendants of an affected male.
 The concepts of dominant and recessive do not apply to Y-linked traits, as only one allele
(on the Y) is ever present in any one (male) individual (this, is of course, ignoring XYY
syndrome, which is a rare chromosomal disorder that affects males. It is caused by the presence
of an extra Y chromosome. Males normally have one X and one Y chromosome.
 However, individuals with this syndrome have one X and two Y chromosomes).