Genetics and Molecular Biology

UNIT ONE

Genetics
Children resemble with each other as well as with their parents, not only in physical
appearance, but also in mental powers. It is the process of transmission of characters from one
generation to next. Genetics is study of genes and the statistical laws governing the passage of
genes from one generation to the next.

Branches of genetics: Medical genetics, clinical genetics, cyto-genetics, molecular genetics,

develomental genetics, immunogenetics, behaviour genetics, population genetics, biochemical
genetics.

Mendelian Inheritance
In the 1860s, an Austrian monk named Gregor Mendel introduced a new theory of inheritance
based on his experimental work with pea plants. Mendel believed that heredity is the result of
discrete units of inheritance, and every single unit (or gene) was independent in its actions in an
individual’s genome. According to this Mendelian concept, the inheritance of a trait depended
on the passing-on of these units. For any given trait, an individual inherits one gene from each
parent so that the individual has a pairing of two genes. We now understand the alternate
forms of these units as ‘alleles’. If the two alleles that form the pair for a trait are identical, then
the individual is said to be homozygous and if the two genes are different, then the individual is
heterozygous for the trait. The breeding experiments of the monk in the mid‐1800s laid the
groundwork for the science of genetics. He studied pea plants for 7 years and published his
results in 1866 which was ignored until 1900 when three separate botanists, who also were
theorizing about heredity in plants, independently cited the work. In appreciation of his work
he was considered as the “Father of Genetics”. A new stream of genetics was established after
his name as Mendelian genetics which involves the study of heredity of both qualitative
(monogenic) and quantitative (polygenic) traits and the influence of environment on their
expressions. Mendelian inheritance which is a type of biological inheritance that follows the
laws originally proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900.

Mendel’s Experiment

Mendel carried out breeding experiments in his monastery’s garden to test inheritance
patterns. He selectively cross-bred common pea plants (Pisum sativum) with selected traits over
several generations.  After crossing two plants which differed in a single trait (tall stems vs.
short stems, round peas vs. wrinkled peas, purple flowers vs. white flowers, etc), Mendel
discovered that the next generation, the “F1” (first filial generation), was comprised entirely of

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individuals exhibiting only one of the traits.  However, when this generation was interbred, its
offspring, the “F2” (second filial generation), showed a 3:1 ratio- three individuals had the same
trait as one parent and one individual had the other parent’s trait.

Mendel’s Laws
Mendel’s Law of Dominance

Mendel’s Law of Dominance states that ‘In crossing between homozygous organisms for
contrasting characters of a pair, only one character of the pair appears in the first generation.’

 The law of dominance is the first law of heredity proposed from the works of Mendel.
The law explains that all characters in an individual are controlled by distinct units called
factors that occur in pairs.

 The pair can be homozygous or heterozygous, and in the case of heterozygous pairs,
one of the factors dominates the other.

 The character that dominates is called the dominant character, and the one that
remains unexpressed is the recessive character.

 The recessive character, even though latent, is transmitted to the offspring in the same
way as the dominant character.

 The recessive character is only expressed when the offspring has two copies of the same
allele resulting in a homozygous individual.

 The two alleles responsible for a character are brought together during fertilization,
where one of the alleles comes from the maternal gamete and the other from the
parental gamete.

 The concept of dominance is strictly only used for genotypic characters and does not
represent the phenotype of the individual.

Example

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Mendel’s Law of Segregation of genes

Mendel’s Law of Segregation states that ‘The hybrids or heterozygotes of F1 generation have
two contrasting characters of dominant and recessive nature where the alleles though remain
together for a long time do not contaminate or mix with each other and separate or segregate
at the time of gametogenesis so that each gamete receives only one allele of a character either
dominant or recessive.’ Or every individual organism contains two alleles for each trait and
these alleles segregate (separate) during meiosis such that each gamete contains only one of
the alleles.

Mendel’s law of segregation is based on following concepts;

 A gene exists in more than one form of an allele.

 During the formation of gametes, the allelic pair of a gene separate so that each gamete
has a single allele.

 All organisms inherit two alleles for a genetic trait.

 The two alleles obtained for a trait are different as one is dominant and the other is
recessive.

 The law of segregation enables the use of Punnett square for the estimation of resulting
genotypes from a cross as it is based on the equal segregation of alleles.

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 The law of segregation is significant as it introduced the concept of hereditary factors

that remain as separate entities even when present together with other similar entities.

 The law was used to disprove a blending theory by the generation of traits encoded by
recessive alleles in the F1 generation.

 An offspring thus receives a pair of alleles for a trait by inheriting homologous

chromosomes from the parent organisms: one allele for each trait from each parent.

 Hence, according to the law, two members of a gene pair segregate from each other
during meiosis; each gamete has an equal probability of obtaining either member of the
gene.

Mendel’s Law of Segregation Characteristics

 Mendel’s law of segregation is based on the first phase of the meiotic cell division,
where the homologous chromosomes with two copies of the same gene are segregated
into individual daughter nuclei.

 The division of homologous chromosomes during meiosis can account for the
segregation of the alleles at the gene locus to form different gametes.

 The mechanisms of segregation can be explained better with an example of

a monohybrid cross between tall and dwarf pea plants.

 It can be assumed that the homozygous tall pea plant has the allele RR, and the short
pea plants have the allele rr.

 The parent with the RR alleles produces the gametes with a single R allele, and the pea
plant with rr alleles produces gametes with a single r allele.

 As a gamete can only contain a single chromosome of a homologous pair, each gamete
carries a single allele.

 During the crossing, the gametes fuse to form a heterozygous or hybrid plant with Rr
alleles consisting of both dominant and recessive alleles.

 As a result of incomplete dominance, the dominant R allele partially expresses itself in

the hybrid of the first generation while the recessive allele remains unexpressed.

 In heterozygous individuals, both the alleles remain together for a long time but do not
interfere or affect each other.

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 In the monohybrid cross, the gametes can combine to form three possible diploid
genotypes; RR, Rr, rr.

Examples of Mendel’s Law of Segregation

Morgan’s work on Drosophila

 T. H Morgan worked on Drosophila, where he crossed homozygous long-winged

Drosophila with homozygous vestigial-winged Drosophila.

 During the cross, the process of segregation can be observed if we assume that the long-
winged Drosophila has a pair of v+v+ alleles for the long wings and the vestigial-
winged Drosophila has vv alleles for the vestigial wings.

 The long-winged Drosophila produces a gamete with a single v + allele, and the vestigial-

winged Drosophila also produces a gamete with v allele.

 The gametes fuse to form hybrids with v+v alleles observed phenotypically as long-
winged Drosophila as v+ is the dominant allele.

 This example shows how the alleles are separated during gamete formation and unite to
produce three distinct genotypes in the hybrids.

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Mendel’s Law of Independent Assortment

Mendel’s Law of Independent Assortment states that ‘when the parents differ from each
other in two or more pairs of contrasting characters, the inheritance of one pair of
characters is independent of the other.’

 In simple words, the law states that all transfer of a particular character from parents to
the offspring remains unaffected by other characters.

 The law indicates that the alleles of different genes are assorted into the gametes
independently of one another.

 Mendel’s work on dihybrid cross between different pea plants led to the discovery of
this law as he observed that the combination of characters in the offspring did not
always match that formed by the combination of the parental traits.

 The law explains the occurrence of a large number of combinations of genes from the
same set of genes which couldn’t be explained previously.

 The law of independent assortment; unlinked or distantly linked segregating genes pairs
behave independently.

 The Law of Independent Assortment states that alleles for separate traits are passed
independently of one another.

 That is, the biological selection of an allele for one trait has nothing to do with the
selection of an allele for any other trait.

 Mendel found support for this law in his dihybrid cross experiments. In his monohybrid
crosses, an idealized 3:1 ratio between dominant and recessive phenotypes resulted. In
dihybrid crosses, however, he found a 9:3:3:1 ratios.

 This shows that each of the two alleles is inherited independently from the other, with a
3:1 phenotypic ratio for each.

Characteristics and Principle of Mendel’s Law of Independent Assortment

 The law of independent assortment, like the law of segregation, is based on meiosis cell
division that occurs during sexual reproduction.

 During meiosis, the diploid chromosomes in the parents are separated to form the
haploid gametes. 

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 The assortment of the chromosomes to the haploid gametes occurs independently of

each other in a random manner.

 Thus, it is possible that the chromosomes from the same source can end up in different
gametes, resulting in different characteristics.

 Independent assortment of genes is also based on recombination of chromosomes

during meiosis which results in a further assortment of genes or characters.

 The pieces of chromosomes from the parents are assorted randomly during
recombination resulting in the independent rearrangement.

 The mechanism of independent assortment can be studied by the example of a cross

between a homozygous pea plant with yellow round seeds and a homozygous pea plant
with green wrinkled seeds.

Examples 

 Mendel used the dihybrid cross between a homozygous pea plant with yellow round
seeds and a homozygous pea plant with green wrinkled seeds. The parents have the
alleles YYRR and yyrr, respectively.

 During meiosis, the chromosomes are separated so that only half the genes are
transported to the gametes. The possible genotypes of the gametes then become YR
and yr.

 As the parents are crossed, the fusion of the gametes results in the F1 hybrid with the
YyRr genotype.

 The F1 hybrids have the phenotype of yellow round seeds as the dominant allele Y for
yellow color, and the dominant allele R for the roundness is expressed.

 The alleles in F1 hybrids can now be segregated into four parts; Y for yellow color, y for
green color, R for roundness, and r for wrinkledness.

 The four alleles can combine in a number of combinations to produce different

genotypes and phenotypes.

 On further crossing, four types of gametes can be formed; YR, Yr. yR, and yr. These
gametes fuse to form sixteen individuals in the F2 generation.

 The ratio of the F2 hybrids is 9 yellow round: 3 yellow wrinkled: 3 green round: 1 green
wrinkled. 

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 This proves that both the characters are inherited independently of one another and are
expressed according to their dominance.

Dihybrid Cross in Drosophila

 Another example of independent assortment can be observed in the dihybrid cross

between homozygous long-winged and black-bodied Drosophila and a vestigial-winged,
grey-bodied Drosophila.

 In this case, the long wing and grey body are the dominant characters. These characters
are segregated and recombined during meiosis cell division which results in the random
independent assortment of characters in the offspring.

 Even though the two characters occur together in the parents, these are inherited
independently in the offsprings.

 The F2 generation of off-springs exists in four different phenotypes; long-winged grey-

bodies, long-winged black-bodied, vestigial-winged grey-bodied, and vestigial-winged
black-bodied.

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Non-Mendelian Inheritance
The inheritance of characteristics is not always as simple as it is for the characteristics that
Mendel studied in pea plants. Each characteristic Mendel investigated was controlled by one
gene that had two possible alleles, one of which was completely dominant to the other. This
resulted in just two possible phenotypes for each characteristic. Each characteristic Mendel
studied was also controlled by a gene on a different (non-homologous) chromosome. As a
result, each characteristic was inherited independently of the other characteristics. A
characteristic may be controlled by one gene with two alleles, but the two alleles may have a
different relationship than the simple dominant-recessive relationship

Mendelian inheritance patterns involve genes that directly influence the outcome of an
organism’s traits and obey Mendel’s laws. Most genes in eukaryotic species follow a Mendelian
pattern of inheritance. However, there are many that do not. Non-Mendelian inheritance is a
general term that refers to any pattern of inheritance in which traits do not segregate in
accordance with Mendel’s laws. These laws describe the inheritance of traits linked to
single genes on chromosomes in the nucleus.

Co-dominance
Co-dominance is the mechanism of dominance seen in some alleles where both alleles of a
gene in a heterozygote lack the dominant and recessive relationship, and each allele is capable
of some degree of phenotypic expression. Co-dominance is sometimes considered as no
dominance at all as the heterozygote shows the phenotypes of both homozygotes. Thus,
heterozygote genotype gives rise to a phenotype distinctly different from either of the
homozygous genotypes. For co-dominant alleles, all upper case base symbols with different
superscripts are used. The upper case letters indicate that each allele can express itself to some
degree even when in the presence of its alternative allele. An example of co-dominance can be
observed in plants where the dominant phenotype is red, and the recessive phenotype is white,
and the heterozygote will have flowers with pink and white spots. Like incomplete dominance,
co-dominance was also not explained by Mendel as the model he chose didn’t express co-
dominance. However, his model can still be used to determine the results of crosses of alleles
by co-complete dominance. According to his model, the resulting F1 generation will be in the
genotypic ratio of 1:2:1 and the phenotypic ratio will be red: spotted: white. Co-dominance can
usually be easily detected in plants and animals with two different colors, but it might also
occur in some less visible traits like the blood type. Thus, co-dominance is different from
incomplete dominance as in co-dominance both the alleles co-exist but separately but in
incomplete dominance, the phenotype will be a blend of the two alleles.

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 Examples of co-dominance include the blood type in humans and livestock with spotted
colors on their hair or feathers.

 Blood type in humans is determined on the basis of the gene for the proteins that
appear on the outside of the blood cells.

 The alleles present are A, B, and O, where A and B represent two different proteins, but
O represents the absence of any proteins.

 The existence of A and B proteins, like two colors in flowers, can occur together as a
result of co-dominance.

 Thus, if both the proteins A and B are inherited to the offsprings, and both are
expressed, AB blood type might occur in the offsprings.

 However, the blood type O represents a dominant/recessive relationship where if A and

B genes are expressed, then O doesn’t get expressed.

 Different animals have different colors on their skin and feathers as a result of co-
dominance.

 When a chicken with white feathers breeds with a chicken with black feathers, the
offsprings have both white and black feathers as a result of co-dominance.

 During co-dominance, both the traits are expressed independently of each other.

 A similar phenomenon is also observed in cows where the breeding of black and white
cows results in cows with the spotting of white and black.

 As a result of co-dominance, both the traits are expressed independently of each other.

 The mixed coat of different colored hair in cattle is termed as roan, which is also a result
of co-dominance.

Incomplete Dominance
 Sometimes in a heterozygote dominant allele does not completely mask the phenotypic
expression of the recessive allele and there occurs an intermediate phenotype in the
heterozygote. This is called incomplete dominance.

With co-dominant alleles, both traits are expressed at the same time. With incomplete
dominance, the same things occur but the traits are blended together rather than occurring in
discrete patches. It thus refers to the condition in heterozygotes where the phenotype is
intermediate between the two homozygotes.

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Example.
In some plants the cross of red and white produces
pink-flowered progeny (Four-o’clock plants (Mirabilis jalapa)
or snapdragons (Antirrhinum majus).

An example of incomplete dominance in humans

is Tay Sachs disease. The normal allele for the gene in this case
produces an enzyme that is responsible for breaking down 
lipids. A defective allele for the gene results in the production of
a nonfunctional enzyme. Heterozygotes who have one normal
and one defective allele produce half as much functional enzyme
as the normal homozygote, and this is enough for normal development. Homozygotes who
have only defective allele, however, produce only nonfunctional enzyme. This leads to the
accumulation of lipids in the brain starting in utero, which causes significant brain damage.
Most individuals with Tay Sachs disease die at a young age, typically by the age of five years.

Genetic Interaction

Polygenic Inheritance
Some traits are controlled by many genes such as the height, IQ, skin color, eye color etc.
Polygenic inheritance occurs when one characteristic is controlled by two or more genes. Often
the genes are large in quantity but small in effect. Some traits are controlled by many genes
such as the height, IQ, skin color, eye color etc. Polygenic inheritance occurs when one
characteristic is controlled by two or more genes. Often the genes are large in quantity but
small in effect.

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Example
Skin Colour in Man
Davenport (1913) in Jamaica found that two pairs of genes, A-a and B-b cause the difference in
skin pigmentation between negro and caucasian people. These genes were found to affect the
character in additive fashion.

Thus, a true negro has four dominant genes, AABB, and a white has four recessive genes aabb.
The F1 offspring of mating of aabb with AABB, are all AaBb and have an intermediate skin
colour termed mulatto. A mating of two such mulattoes produces a wide variety of skin colour
in the offspring, ranging from skins as dark as the original negro parent to as white as the
original white parent.

Gene
A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some
genes act as instructions to make molecules called proteins. However, many genes do not code
for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2
million bases. The set of genes for one or more characters possessed by an individual is the
genotype. A diploid individual often has two alleles for the determination of a character.

Alleles
An allele is a variant form of a gene. Some genes have a variety of different forms, which are
located at the same position, or genetic locus, on a chromosome. Humans are called diploid
organisms because they have two alleles at each genetic locus, with one allele inherited from
each parent.

Dominant and Recessive gene

In genetics, each gene is a section of DNA that determines a trait. A trait is a feature or
characteristic that is passed on genetically. The different versions and combinations of genes
that are possible are called alleles. For example, the gene responsible for eye color has alleles
including brown eyes, blue eyes, green eyes, and more. Alleles can be either dominant or
recessive variations of a gene. If a person has brown eyes, then they have at least one brown
eye allele, which is dominant. If a person has blue eyes, which is recessive, they have two
recessive alleles. The opposite of a recessive gene is a dominant gene.

The genotype is the combination of alleles a person has while the phenotype is the expression
of these alleles. For example, if a fly has even one W allele, then it will have normal wings. The
genotype could be WW, Ww, or wW to create the phenotype of normal wings. Only the ww
genotype would have a wrinkled wing phenotype.

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Epistasis
Due to the phenomenon of dominance a recessive allele remains obscure in the hybrid. But
when two different genes which are not alleles, both affect the same character in such a way
that the expression of one masks, inhibits or suppresses the expression of the other gene, it is
called epistasis. The gene that suppresses is said to be epistatic, and the gene which remains
obscure is hypostatic.

Dominant Epistasis
In poultry white birds belong to two different varieties namely white leghorns or white
Wyandotte’s. Experiments reveal that the gene for white plumage of white leghorns is
dominant over the gene for coloured plumage of coloured varieties. But the gene for white
plumage of white Wyandotte’s is recessive to the gene for coloured plumage of coloured
varieties.

Therefore the gene which produces white plumage in white leghorns is different from the gene
for white plumage in white Wyandotte’s. A cross between a white leghorn and a white
Wyandotte gives an F1 of white birds with small dark flecks. When such birds are inbred, the
F2 progeny segregates in the ratio of 13 white to 3 colored birds.

The experiment is explained below by postulating two genes C and I for the white leghorns:

A checkerboard for the 16 phenotypes and genotypes of the F 2 birds indicates that only three
out of sixteen genotypes, that are iiCC, iiCc, iiCc produce coloured birds. The white leghorns
obviously contain a gene I, which in the dominant state inhibits or suppresses the expression of
the dominant colour gene C, resulting in white plumage.
The recessive alleles of the inhibitor gene (ii) produce colored birds due to expression of gene C.
In other words, gene I epistatic to gene C. This is a case of dominant epistasis because even one
dominant allele of gene I is able to express itself.

Recessive Epistasis

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Epistasis due to recessive genes is called recessive epistasis. In mice albinism (white coat) is
produced by a recessive gene aa. There is a different gene B which in the dominant state (BB
and Bb) produces grey coat colour called agouti, and when recessive (bb) leads to black coat
colour.

The recessive gene for albinism (aa) is found to be epistatic to the gene for agouti (BB and Bb),
and also to its recessive, homozygous allele (bb) for black. The presence of the dominant allele
(AA) of the epistatic gene allows expression of gene B so that agouti (BB and Bb) and black (bb)
coat colors can be produced

Multiple Alleles

Blood groups in human (ABO and Rh)

There are three common alleles for the gene that controls this characteristic. The alleles I A and
IB are dominant over i. A person who is homozygous recessive ii has type O blood. Homozygous
dominant IAIA or heterozygous dominant IAi have type A blood, and homozygous dominant IBIB or
heterozygous dominant IBi have type B blood. IAIB people have type AB blood, because the A and
B alleles are co-dominant. Type A and type B parents can have a type AB child. Type A and type
B parents can also have a child with Type O blood, if they are both heterozygous (IBi, IAi).

Type A blood: IAIA, IAi

Type B blood: IB IB, IBi

Type AB blood: IAIB

Type O blood: ii

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Pleiotropy
Some genes affect more than one phenotypic trait. This is called pleiotropy. There are
numerous examples of pleiotropy in humans. They
generally involve important proteins that are needed for the normal 
development or functioning of more than one organ system. An
example of pleiotropy in humans occurs with the gene that codes for
the main protein in collagen, a substance that helps form bones.
This protein is also important in the ears and eyes. Mutations in the
gene result in problems not only in bones, but also in these sensory
organs.Some genes affect many different characteristics, not just a
single characteristic.
Another example of pleiotropy occurs with sickle cell anemia. This
recessive genetic disorder occurs when there is a mutation in the gene
that normally encodes the red blood cell protein called hemoglobin. People with the disorder
have two alleles for sickle cell hemoglobin, so named for the sickle shape that their red blood
cells take on under certain conditions (like physical exertion). The sickle-shaped red blood cells
clog small blood vessels, causing multiple phenotypic effects, including stunting of physical
growth, certain bone deformities, kidney failure, and strokes.

Linkage
Each chromosome contains more than one gene. If the genes are situated in the same
chromosome and are fairly close to each other, they tend to be inherited together. This type of
coexistence of two or more genes in the same chromosome is known as linkage. The principle
of linkage was discovered by English Scientists William Bateson and R.C. Punnet in 1906 in
Sweet Pea (Lathyrus odoratus). However, it was put forward as a regular concept by Morgan in
1910 from his work on (Drosophila melanogaster). Linkage is the phenomenon of certain genes
staying together during inheritance through several generations without any change or
separation due to their being present on same chromosomes.

Characteristics of linkage

1. Linkage involves two or more genes which are linked in same chromosomes in a linear
fashion.
2. Linkage reduces variability.
3. It may involve either dominant or recessive alleles (coupling phase) or some dominant
and some recessive alleles (repulsion phase).
4. It usually involves those genes which are located close to each other.

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5. The strength of linkage depends on the distance between the linked gene.
6. Lesser the distance higher the strength of linkage.

Theories of linkage
Differential multiplication theory

This theory was put forward by Bateson in 1930. He said that after the segregation of genes
during gametogenesis certain genes multiply faster than others.

Chromosome theory

Morgan and Castle associate genes with chromosome and formulated postulates. The genes
which show Linkage are located in same chromosome. The distance between linked gene in the
chromosome determine the strength of linkage. The genes lie in a linear manner in the
chromosomes.

Types of linkage
Complete linkage

The phenomenon in which the genes present in single chromosome donot separate and inherit
together in the successive generations due to the absence of crossing over is called complete
linkage. Hence it produce parental combinations but not non-parental combinations. It is very
rare in nature but found in male drosophila.Eg. A cross between grey body normal wing(GGNN)
with black body vestigial wing(ggnn).

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Incomplete linkage

The phenomenon in which linked genes present in the same chromosome have tendency to
separate due to crossing over and forms both parental and non-parental combinations in the F2
generation is called incomplete linkage. For eg. When coloured full seed (CCFF) of maize is
crossed with colourless shrunken seed (ccff) of maize.

Non–disjunction

From above cross, the F1 offspring were coloured and full (CcFf). When F1 hybrid is crossed
with recessive parents i.e. colourless shrunken, they produce both parental and non- parental
combinations with four combinations with four phenotypes in the ratio of 1:1:1:1 i.e. 1
coloured full: 1 coloured shrunken: 1 colourless full: 1 colouress shrunken. This is due to
incomplete linkage.

Significance

It reduces the chances of formation of new combinations of genes in gametes. It helps keeping
the parental, racial and specific traits together. It also useful for maintaining the good character
of newly developed variety. Linkage plays an important role in determining the nature and
scope of hybridization.

Crossing over
Frans Alfons Janssens who described the phenomenon of crossing over in 1909. He is observed
cross-like arrangements in meiosis and proposed crossing over as a genetic process. Crossing
over or (chromosomal cross over) is the exchange of genetic material between homologous
chromosomes that results in recombinant chromosomes.

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Characteristics of crossing over

Crossing over occurs between non-sister chromatids.

One chromatid from each of the two homologues chromosomes is involved in crossing over.

Crossing over leads to re-combinations or new combinations between linked genes.

The value of crossover or recombinants may vary from 0- 50%.

Crossing over generally yields two recombinant types or crossover types and two parental types
or non-crossover types.

Crossing over generally leads to exchange of equal segments or genes and recombination is
always reciprocal.

Stage at which crossing over occur

The meiotic crossing over takes place during the pachytene stage of the prophase of meiosis I.
Pachytene stage is also known as recombination stage. Crossing over occurs when homologus
chromosomes are in the four chromatid or tetrad stage in pachytene.

Types of crossing over

Somatic or mitotic crossing over

This type of crossing over occurs in the somatic cells during mitosis. It is rare and has no genetic
significance. Example- Curt Stern reported it in the fruit fly and Potnecorvo noted it in the
fungus Aspergillus

Germinal or meiotic crossing over

This type of crossing over takes place in the germinal cells during meiosis that produces
gametes. It is universal and has a great genetic significance.

Equal crossing over

The segments exchanged between the chromosomes are of equal size. It is divided into three
types according to the number of points at which it occurs. It is of:

Single crossing over

In this type of crossing over the chromatids break and reunite at one point only.

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Double crossing over

During this type of crossing over the chromatids break and reunite at two points in the same
tetrad.

Multiple crossing over

In multiple crossing over, chromatid break and reunite at many points in the tetrad. It occurs
rarely.

Unequal crossing over

The segments exchange between chromatids is unequal so that one chromosome receives an
extra gene, and other gets one gene less.

fig: Types of crossing over

Mechanism of crossing over

Synapsis

In the Zygotene or pairing stage of prophase-I, the homologous chromosome of each pair come
together and line up side by side. This pairing of homologous chromosomes is called synapsis.

Tetrad formation

The two chromatids of chromosome are referred to as dyad. A group of four homologous
chromatids (two dyad) of two synapsed homologous chromosome is known as tetrad. The two

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chromatids of same chromosome are called sister chromatids. The two chromatids, one of the
one chromosome and other of its homologue, are termed non-sister chromatids. A highly
organized structure of filaments is formed between the paired homologous chromosome at the
zygotene and pachytene stages of meiosis-I, the structure is called synaptonemal complex. It
helps in crossing over by keeping the homologous chromosome in closely paired state.

Exchange of chromatid segments

Two non-sister chromatid in a tetrad break at equivalent locations. The broken ends transpose
and join the respective broken ends of opposite chromatid. This completes the process of
crossing over. The unchanged chromatids are called parental or non-cross overs. The changed
chromatids are called recombinants.

Terminalization

Completion of crossing over marks the end of pachytene stage and beginning of diplotene
stage. Synaptic forces end and the homologous chromosomes separate. The points at which the
separation does not occur is called chiasmata. The chromatids separate progressively from the
centromere towards the chiasma which moves like a zipper towards the end of tetrad. The
slipping of chiasmata towards the ends of the bivalents is called terminalization

Factors affecting crossing over

Maternal age effect

Temperature

Nutritional and chemical effect

Chromosomes effect

Centromere effect

Mutation effect

Sex

Significance of crossing over

Crossing over has helps in establishing the concept of liner arrangements of genes.

The frequency of Crossing over helps in mapping of chromosomes i.e. determining the location
of genes on the chromosomes.

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It is an important factor in sexual reproduction.

It increases the variation which is vital for evolution.

It helps in plant breeding also

Sex determination in animals

A sex-determination system is a biological system that determines the development of sexual
characteristics in an organism. Most organisms that create their offspring using sexual
reproduction have two sexes. In some species there are hermaphrodites. There are also some
species that are only one sex due to parthenogenesis, the act of a female reproducing without
fertilization. In many species, sex determination is genetic i.e. males and females have different
alleles or even different genes that specify their sexual morphology. In animals this is often
accompanied by chromosomal differences, generally through combinations of XY, ZW, XO, ZO
chromosomes, or haplodiploidy.

Chromosomal sex determination

The XY sex determination system is found in humans, most placental mammals, as well as some
insects, snakes, fish, and plants. In this system, the genetic sex of an offspring is determined by
a pair of sex chromosomes, always an X from the mother, and either an X or Y from the father.
The sex chromosome from the father is considered the sex determining chromosome because
it ultimately determines whether the offspring will be genetically male or female. A gene called
SRY on the Y chromosome initiates the release of testosterone and the formation of male sex
organs. SRY is a transcription factor that can turn on the expression of other genes, serving as a
master switch to turn on the suite of “male” genes in a developing organism.

ZW sex determination

The ZW sex determination system is found in birds, amphibians, some reptiles, and plants like
willow, pistachio, and strawberry. In this system the genetic sex of an offspring is determined
by a pair of sex chromosomes, always a Z from the father, and either a Z or W from the mother.
The ZW system is opposite of the XY system in that the mother’s sex chromosome determines
the genetic sex of the offspring. Just as the mammalian Y chromosome carries the male-
determining SRY gene, the bird W chromosome carries similar master switches FET1 and ASW,
which are necessary for female development of the offspring.

XO sex determination

The XO sex determination system is found in insects like true bugs, grasshoppers, and locusts.
Females have two X chromosomes (XX) and males simply carry a single X, the “O” in “XO”

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indicates the absence of the second sex chromosome. Males produce two types of sperm, half
carrying a single X chromosome and the other half carrying no sex chromosome at all. Eggs
fertilized with a sperm carrying the X chromosome will be genetically female, while eggs
fertilized with a sperm carrying no sex chromosome will be genetically male.

Haplodiploid sex determination

The haplodiploid sex determination system is found in several social insects like ants, bees and
wasps. Females have a full set of 32 chromosomes and males are haploid, having only 16
chromosomes. Unfertilized eggs develop into males while fertilized eggs develop into females.
In this way, it is possible for a male to have a grandfather and grandsons but not a father or
sons.

Environmental sex determination

In some species of reptiles, including alligators, some turtles, and the tuatara, sex is determined
by the temperature at which the egg is incubated during a temperature-sensitive period. For
example, a warmer area could be more suitable for nesting, so more females are produced. In
the marine worm Bonellia viridis larvae become males if they make physical contact with a
female, and females if they end up on the bare sea floor. This is triggered by the presence of a
chemical produced by the females, bonellin. Some species, such as some snails, practice sex
change: adults start out male, and then become female. In tropical clown fish, the dominant
individual in a group becomes female while the other ones are male.

Sex-Linked Inheritance
Sex-Linked Inheritance is the inheritance of a trait (phenotype) that is determined by a gene
located on one of the sex chromosomes. The genes which occur exclusively on the X
chromosome are called X-linked genes while the genes which exclusively occur in Y
chromosome are called holandric genes. The inheritance of such X-linked and holandric genes is
called sex-linked inheritance.

Characteristics

It has been observed that the genes occurring only in the X chromosomes are represented
twice in female (because female contains 2X chromosomes) and once in male (because male
has only one X chromosome).The differential region of each chromosome (i.e., X) contain genes
that have no counterparts on the other kind of sex chromosome. These genes, whether
dominant or recessive, show their effects in the male phenotype. Genes in the differential
regions are called hemizygous (“half zygous”) in the males.
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X linked genes inheritance (Recessive)

The X-linked recessive genes show criss-cross pattern of inheritance. In criss-cross inheritance,
an X-linked recessive gene is transmitted from P1 male parent (father) to F2 male progeny
(grandsons) through its F1 heterozygous females (daughters), which are called carriers) and
different F1 and F2 results (ratios) in the reciprocal crosses.

The X-linked recessive phenotype is usually found more frequently in the male than in the
female. This is because an affected female can result only when both mother and father bear
the X-linked recessive allele (e.g., XA Xa × Xa Y), whereas an affected male can result when only
the mother carries the gene.

Usually none of the offspring of an affected male will be affected, but all his daughters will carry
the gene in masked heterozygous condition, so one half of their sons (i.e., grandsons of F1
father) will be affected. None of the sons of an affected male will inherit the X-linked recessive
gene, so not only will they be free of the defective phenotype; but they will not pass the gene
along to their offspring.

Example

In Drosophila, the gene for white eye colour is X linked and recessive to another X-linked,
dominant gene for red-eye colour.

When white-eyed male was mated with a red-eyed female the F1 flies were all red-eyed. F2
generation of it included 3: 1 ratio of red and white-eyed flies. But all white eyed flies of F2
generation were males only. When normal female of F1 is crossed with normal male 50% of
males were white-eyed and 50% were red-eyed It shows that the recessive allele is expressed in
male only. The common sex-linked disorders that are mostly found in humans are mostly
recessive. They include disorders like Color-blindness and Haemophilia.

Inheritance of X-Linked Dominant Genes

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Dominant X-linked genes are detected more frequently found in the female than in the male of
the species. The affected males pass the condition on to all of their daughters but to none of
their sons. Females usually pass the condition (defective phenotype) on to one-half of their
sons and daughters. A X-linked dominant gene fails to be transmitted to any son from a mother
which did not exhibit the trait itself.

Human Disorders
In humans, X-linked dominant conditions are relatively rare. One example is hypophosphatemia
(vitamin D-resistant rickets). Another example includes hereditary enamel hypoplasia
(hypoplastic amelogenesis imperfecta), in which tooth enamel is abnormally thin so that teeth
appear small and wear rapidly down to the gums.

Y linked genes inheritance

Genes in the non-homologous region of the Y chromosome pass directly from male to male. In
man, the Y-linked or holandric genes are transmitted directly from father to son.

Example

Genes for ichthyosis hystrix gravis hypertrichosis (excessive development of hairs on pinna of
ear). Genes for H-Y antigen, histocompatibility antigen, spermatogenesis, height (stature) and
slower maturation of individual.

X-Y linked genes inheritance

The genes which occur in homologous section of X and Y chromosome have inheritance like the
autosomal genes. The X-Y linked genes are partially or incompletely sex-linked. In humans
several disease are X-Y linked. These diseases are total colour blindness, xeroderma
pigmentosum, Retinitis pigmentosa

Chromosomal Variations
Chromosomal aberration

Chromosomal aberrations, or abnormalities, are changes to the structure or number of

chromosomes, which are strands of condensed genetic material. A change to any of the
chromosomes, in number or structure, creates a chromosomal aberration and may cause
medical disorders. Chromosomal aberrations can be categorized as numerical and structural
aberrations. Numerical aberrations, changes to the number of chromosomes present, are
referred to as aneuploidies. The most common types of aneuploidy are monosomies, when only

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one chromosome of a pair is present, and trisomies, when there are three copies of a
chromosome instead of a pair.

Structural chromosomal aberrations

The four main types of structural chromosomal aberrations are deletion, duplication,
inversion, and translocation. Deletions occur when a portion of the chromosome is
deleted, or taken out, which can make that chromosome less functional. For example, when
part of a short arm in chromosome 5 is deleted, this causes Cri-du-chat syndrome, common
symptoms of which are reduced head size and high-pitched crying in infants. In duplication,
part of the chromosome is duplicated, resulting in extra genetic material. This occurs in
Charcot-Marie-Tooth disease type I, which duplicates part of chromosome 17, causing muscle
weakness. Inversion of a chromosome happens when the genetic material is inverted, or
flipped in the opposite direction. Inversions do not often result in disease and most commonly
affect chromosome 2. Translocations occur when a piece of one chromosome has broken off
from its original location and attached to another chromosome. The most common example is a
Robertosonian translocation, which results when two acrocentric chromosomes (chromosomes
with arms of unequal lengths due to a non-centered centromere) lose the short arms of the
chromosomes, and the two long arms consequently conjoin. Robertsonian translocations are
one potential cause of trisomies.

Numerical aberrations (aneuploidy)

The abnormal condition were one or more chromosomes of a normal set of chromosomes are
missing or present in more than their usual number of copies

The different conditions of aneuploidy are:

1. Nullisomy - the loss of both pairs of homologous chromosomes; individuals are called
nullisomics and their chromosomal composition is 2N-2
2. Monosomy - the loss of a single chromosome; individuals are called monosomics and
their chromosomal composition is 2N-1
3. Trisomy - the gain of an extra copy of a chromosome; individuals are called trisomics
and their chromosomal composition is 2N+1
4. Tetrasomic - the gain of an extra pair of homologous chromosomes; individuals are
called tetrasomics and their chromosomal composition is 2N+2

Chromosomal disorders are most commonly the result of aneuploidies and are most often
trisomies. Notably, trisomy 21, or the presence of an extra chromosome 21, is the cause of
Down syndrome. Down syndrome can present with a variety of signs and symptoms,

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including brushfield spots, which are small white/grey spots on the edge of the iris, the colored
part of the eye; dysmorphic features (e.g., atypically small head or flat face); gastrointestinal
problems (e.g., vomiting); cardiovascular problems; neuromuscular problems (e.g., decreased
muscle tone); pale skin; fatigue; and shortness of breath.

The other two most common autosomal trisomies are trisomy 18, which results in Edwards’s
syndrome, and trisomy 13, which leads to Patau syndrome. Edwards’s syndrome often
presents with severe mental disability, clenched hands, a large back of the head, a small mouth,
low-set ears, and rocker-bottom feet, which are characterized by large heels. Signs of patau
syndrome include severe intellectual disability, a small head, small eyes, cleft lips or palate,
more than five fingers on a hand (i.e., polydactyly), rocker-bottom feet, and malformation of
the forebrain (i.e., holoprosencephaly). High maternal age is a risk factor for all three trisomy
disorders and for chromosomal aberrations in general.

Aneuploidies of the sex chromosomes can also occur, but they usually present with different
symptoms than autosomal disorders. In general, the signs and symptoms of sex chromosome
aneuploidies include delayed puberty, absence of menstruation, ambiguous genitalia, and
infertility. The most common sex chromosome disorder is Klinefelter syndrome, in which an
individual with XY chromosomes has an additional X chromome, or the genotype of XXY, and is
often assigned male at birth. The other two sex chromsome trisomies are XYY syndrome and
XXX syndrome. Finally, Turner syndrome is the only sex chromosome monosomy, which
occurs when a person inherits only one X chromosome and is usually assigned female at birth.

Aneuploidy may result when an error occurs during meiosis. Most commonly this error is
known as nondisjunction, when a set of chromosomes do not properly separate, which leaves
one or two sex cells with an extra chromosome or with one less chromosome. If a sex cell
affected by nondisjunction undergoes fertilization, the resulting offspring will have inherited
one more or one less chromosome and may develop a chromosomal disorder.

Euploidy
Euploidy is a chromosomal variation that involves the entire set of chromosomes in a cell or an
organism. Euploidy is more tolerated in plants than in animals. Those euploid types whose
number set greater than two are called polyploidy. The number of chromosomes in a basic set
is called monoploid number (n). The haploid (n) refers to the number of chromosomes in the
gamete. Thus n is monoploid, 2n is diploid, 3n is triploid, 4n tetraploid, 5n pentaploid, 6n
hexaploid. Other types of euploidy are autopolyploidy and allopolyploidy. In autopolyploidy,
there is an additional set of chromosomes, which may be from a parent or identical parental
species (i.e. a single taxon). The cell or organisms in autopolyploid condition is called an

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autopolyploid. Natural autopolyploids are Tolmiea menzisii (piggyback plant) and Acipenser
transmontanum (white sturgeon). In allopolyploidy, the additional set of chromosomes comes
from another species (i.e. from two or more diverged taxa). The cell or the organism in
allopolyploidy state is referred to as allopolyploid. Wheat is an example of an allopolyploid with
six chromosome sets.

Monoploids
An individual that contains one half the normal numbers of chromosomes is a monoploid.
Some species such as bees, ants and male bees are normally monoploid because they develop
from unfertilized eggs.

Polyploidy
An organism or individual having more than two basic or monoploid sets of chromosomes is
called polyploid and such condition is known as polyploidy. Polyploidy is of two types, viz: (A)
Autopolyploidy, and (B) Allopolyploidy.

Autopolyploidy
Polyploids which originate by multiplication of the chromosome of a single species are known
as autopolyploids or autoploids and such situation is referred to as autopolyploidy. In other
words, autoploidy refers to the situation in which additional sets of chromosomes arise from
the same species.

Autoploids include triploids (3x), tetraploids (4x), pentaploids (5x), hexaploids (6x), septaploids
(7x), octaploids (8x), and so on. Autoploids are also known as simple polyploids or single species
polyploids.

Allopolyploid
A polyploid organism which originates by combining complete chromosome sets from two or
more species is known as allopolyploid or alloploid and such condition is referred to as
allopolyploidy. Alloploids are also known as hybrid polyploids or bispecies or multispecies
polyploids. An allopolyploid which arises by combining genomes of two diploid species is
termed as allotetraploid or amphidiploid. Allopolyploidy can be developed by interspecific
crosses and fertility is restored by chromosome doubling with colchicine treatment. Alloploidy
has played greater role in crop evolution than autopolyploidy, because allopolyploidy is found
in about 50% of crop plants. The bread wheat (Triticum aestivum) is an allopolyploid. It is
believed that A genome of wheat has come from Triticum monococcum (2n = 14), D genome
from Triticum tauschi (2n = 14) and B genome from unknown source p

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robably from an extinct species (2n = 14). Thus hexaploid wheat has two copies of the genomes
from three species.

Mutations and their types

Mutation

Any change in the DNA sequence of an organism is a mutation.  Mutations are the source of
the altered versions of genes that provide the raw material for evolution.  Most mutations
have no effect on the organism, especially among the eukaryotes, because a large portion of
the DNA is not in genes and thus does not affect the organism’s phenotype.

DNA sequence
Transcription Normal gene
↓
GGTCTCCTCACGCCA (anti sense Strand)
mRNA sequence
↓
↓ Translation
CCAGAGGAGUGCGGU (mRNA )
Polypeptide
Codons

Pro-Glu-Glu-Cys-Gly (Polypeptide)

Amino acids

The antisense strand is the DNA strand which acts as the template for mRNA transcription.

Kinds of mutation
Substitution

A point mutation in which a nucleotide of a triplet is replaced by another nucleotide, is called

substitution mutation. In substitution, purine is replaced by purine or pyrimidine.

Normal gene GGTCTCCTCACGCCA Substitution mutation GGTCACCTCACGCCA

Codons CCAGAGGAGUGCGGU CCAGUGGAGUGCGGU

Amino acids Pro-Glu-Glu-Cys-Gly Pro-Arg-Glu-Cys-Gly

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Substitutions will only affect a single codon. Their effects may not be serious unless they affect
an amino acid that is essential for the structure and function of the finished protein molecule
(e.g.sickle cell anaemia)

Inversion

The movement of a gene within the same chromosome is called inversion.

Normal gene GGTCTCCTCACGCCA Inversion mutation GGTCCTCTCACGCCA

Codons CCAGAGGAGUGCGGU CCAGGAGAGUGCGGU

Amino acids Pro-Glu-Glu-Cys-Gly Pro-Gly-Glu-Cys-Gly

A frame shift mutation

A mutation in which there is deletion or insertion of one or a few nucleotides is called frame
shift mutation. Addition or deletion of one or two bases results in new sequence of codons
which may code for entirely different amino acids and the proteins often become non-
functional.

Additions

Normal gene GGTCTCCTCACGCCA Addition mutation GGTGCTCCTCACGCCA

Codons CCAGAGGAGUGCGGU CCACGAGGAGUGCGGU

Amino acids Pro-Glu-Glu-Cys-Gly Pro-Arg-Gly-Val-Arg

Deletions

Normal gene GGTCTCCTCACGCCA Deletion mutation GGTC/CCTCACGCCA

Codon CCAGAGGAGUGCGGU CCA GGGAGUGCGGU

Amino acids Pro-Glu-Glu-Cys-Gly Pro-Gly-Ser-Ala-Val

Somatic mutations

 Mutations that are in the somatic tissues of the body.

 Mutations are not transmitted to progeny.

 The extent of the phenotypic effect depends upon whether the mutation is dominant or
recessive (dominant mutations generally have a greater

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Germinal mutations

 Mutations that are in the germ tissues of the body.

 Mutations may be transmitted to progeny

 Dominant mutations are seen in first generation after the mutation occurs

Human Genetics
Pedigree analysis

A record of inheritance of certain traits for two or more generations presented in the form of a
diagram or family tree is called pedigree. A chart which displays the affected members of a
family by genetic diseases in the form of a family tree is called pedigree chart. The study of such
a chart to detect genetic diseases in a family is called pedigree analysis. The diagram gives some
common symbols in pedigree analysis.

Autosomal Recessive Traits

In an autosomal recessive disorder, both parents cannot express the trait, however, if both are
carriers, their offspring can express the trait. Autosomal recessive disorders typically skip a
generation, so affected offspring typically have unaffected parents. With an autosomal
recessive disorder, both males and females are equally likely to be affected.

Autosomal Dominant Traits

Autosomal dominant disorders do not skip a generation, so affected offspring have affected
parents. One parent must have the disorder for its offspring to be affected. Both males and
females are equally likely to be affected, so it is an autosomal disorder.

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X-linked recessive

In a X-linked recessive disorder, males are more likely to be affected than females. Affected
sons typically have unaffected mothers. The father also must be affected for daughter to be
affected and the mother must be affected or a carrier for the daughter to be affected. The
disorder is also never passed from father to son. Only females can be carriers for the disorders.
X-linked recessive disorders also typically skip a generation.

X-linked dominant trait

In a X-Linked dominant disorder, if the father is affected all daughters will be affected and no
sons will be affected. It does not skip a generation and if the mother is affected she has a 50%
chance of passing it onto her offspring.

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Y-linked disorder

In a Y-linked disorder, only males can be affected. If the father is affected all sons will be
affected. It also does not skip a generation.

Mitochondrial disorder

In mitochondrial disorders it is only passed on if the mother is affected. If the mother is

affected, all offspring will be affected. If the father is affected, he does not pass it on to his
offspring.

Human genetic traits

 A trait can be defined as the characteristic feature of an individual. The characters may appear
either due to phenotypic or genotypically. The traits mainly determine the genes or are
expressed based on their interaction with the environment. The trait is the appearance of the
gene product that is expressed externally. Some of the traits are regulated by the genes which
are passed from parents to their offspring.

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Earlobe attachment trait

In certain persons, the earlobes are detached and hang free. But when they found attached,
they are connected to the sides directly. The earlobe attachment is a type of continuous trait, in
which most of the earlobe and grouped as unattached and attached, few of them are partially
attached. This type of trait is controlled by a single gene having unattached earlobes. The
earlobe attachment and its shape are completely inherited but likely many genes are involved
in this trait development. Hence it is very difficult to predict such a pattern of inheritance.

Tongue rolling trait

Many people can able to roll up their sides of their tongue, and forms a tube shape. Alfred
Sturtvant in 1940 observed about 70% of people in Europe can roll their tongues. The other
30% of people are unable to roll their tongue. The tongue rolling is controlled by a single type of
gene. The people when older they learn to roll their tongue, which suggests that not only the
genes but also the environment also make changes in the difference in alleles. Most of the
identical twins (about 70%) share this type of trait. If the trait is influenced by the genes alone,
then all the identical twins can able to roll their tongues.

The dimples trait

The dimples are the small indentation that is naturally found on the necks. Dimples appear on
both sides of the neck, which change throughout the age. The dimples are highly inherited, that
the people with dimples will have children with the same dimples in certain cases. This
inheritance is unpredictable, hence the dimples are considered as an irregular dominant trait.
The dimples development is controlled by other types of genes.

The handedness trait

This explains the preference of using the right or left hand for writing and/or throwing the ball.
About 10% of the world population is left-handed. This trait is controlled by one or two genes.
Many studies show that the handedness trait is controlled by more than a single gene (about 30
to 100 genes). These genes are genetically linked to the development of brains. Along with the
genes, the environment also determines the handedness trait in many people.

The freckles trait

The freckles are very small spots that are concentrated in the skin with a pigment called
melanin. People having red and fair skin possess freckles. This trait is controlled by the MC1R
gene that displays a pattern of dominant inheritance. The children born with freckles parents
also will have freckles. The variation in MC1R controls the number of freckles. Other genes
controls along with freckles are its size, color, and pattern formation.

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The curly hair trait

The shape of hair follicle cells determines the straightness of the hair. For instance, the rounded
follicle cells make straight hair, whiles the flat follicle cells produce curling hair. The texture of
the hair is a continuous trait, which means that it can be straight or curling. Curling hair is
mainly influenced by environmental factors. The inheritance pattern of the curling hair
generally can't be predicted. The hair texture is controlled by multiple genes. For example,
African people have curly hair and is rare among Asian people. The Europeans having an
intermediary type of curly hair.

The hand clasping trait

Holding the arms together while thinking about something is called hand clasping, which
determines which thumb should found in the top. About 55% of people have a left thumb in the
top, while the remaining 45% have their right thumb on top during clasping. The identical twins
have a very strong genetic basis but do not take the rule of predictable inheritance patterns.
Clasping is also likely affected by certain environmental factors with multiple genes.

The hairline shape trait

The formation of a straight line in hair is found in the center of the forehead. The hairline is of
two types such as 1) widow’s peak, and 2) straight line. The widow’s peak is a dominant trait is
controlled by a single gene, rather than by the environmental factors. The hairlines shape is
found in families whose pattern of inheritance is not predictable, which means that they are
inherited in many genes.

Sex-linked diseases
Genes are inherited from our biological parents in specific ways. One of the basic patterns of
inheritance of our genes is called X-linked recessive inheritance. X-linked inheritance means
that the gene causing the trait or the disorder is located on the X chromosome. Females have
two X chromosomes; males have one X and one Y. Genes on the X chromosome can be
recessive or dominant. Their expression in females and males is not the same. Genes on the Y
chromosome do not exactly pair up with the genes on the X chromosome. X-linked recessive
genes are expressed in females only if there are two copies of the gene (one on each X
chromosome). However, for males, there needs to be only one copy of an X-linked recessive
gene in order for the trait or disorder to be expressed. For example, a woman can carry a
recessive gene on one of the X chromosomes unknowingly, and pass it on to a son, who will
express the trait.

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X-linked recessive disease

Red-green color blindness

Red-green color blindness simply means that a person cannot distinguish shades of red and
green (usually blue-green). Their visual acuity (ability to see) is normal.

Hemophilia A

Hemophilia A is a disorder where the blood cannot clot properly due to a deficiency of a clotting
factor called Factor VIII. This result in abnormally heavy bleeding that will not stop, even from a
small cut. People with hemophilia A bruise easily and can have internal bleeding into their joints
and muscles.

Hypophosphatemic Rickets

This X-linked dominant disorder is caused by defective phosphate reabsorption in the proximal
renal tubules. It develops deformities similar to those of vitamin D deficiency rickets including
enlargement of the wrists and knees, and bow legs. Impaired growth is common. Dental
abnormalities may occur. Affected adults may have symptomatic osteomalacia and bone pain.

Disorders due to mutant genes

Huntington's disease, chorea, or disorder (HD)

It is an incurable neurodegenerative genetic disorder that affects muscle coordination and

some cognitive functions, typically becoming noticeable in middle age. It is the most common
genetic cause of abnormal involuntary writhing movements called chorea. It is much more
common in people of Western Europe descent than in those from Asia or Africa. The disease is
caused by a dominant mutation on either of the two copies of a specific gene, located on an
autosomal chromosome. Any child of an affected parent has a 50% chance of inheriting the
disease. In rare situations where either parents have an affected gene, or either parent has two
affected copies, this chance is greatly increased. Physical symptoms of Huntington's disease can
begin at any age from infancy to old age.

Achondroplasia dwarfism

It is a type of autosomal dominant genetic disorder that is a common cause of dwarfism.

Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3-
1/2 inches) for males and 123 cm (4 feet, 1/2 inches) for females. The prevalence is
approximately 1 in 25,000.

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PTC tasters

In human beings there exists a autosomal dominant allele for the ability to taste the bitterness
of the chemical called phenylthiocarbamite (PTC). This gene is inherited in simple Mendelian
fashion to give a 3:1 monohybrid ratio.

Brachydactyle

In this disorder, middle joints of the digits (phalenges) in hands or feet remain rudimentary and
fuse with an adjacent joints. Consequently, the fingers and toes become abnormally short. The
defects of brachydactyle is caused by a dominant gene existing on an autosome.

Phenylketonuria

Persons having autosomal homozygous recessive allele fail to produce an enzyme called
phenylalanine hydroxylase. This enzyme is required to by the body to convert phenylalanine
into tyrosine. As a result, the concentration of phenylalanine increases in the blood. In the
blood, it is partially converted into phenylpyruvate, phenylacetate and other derivatives. These
are excreted in the urine. The patients of PKU have light body pigmentation, physically and
mentally retarted.

Alkaptonuria

The persons with autosomal homozygous recessive gene fail to produce the enzyme
homogentistic acid oxidase which catalyzes the oxidation of alkapton. Therefore the normal
oxidation of alkapton into acetoacetic acid and ultimately into water and carbondioxide does
not takes place. Due to this large amount of alkapton is accumulated in the blood and excreted
in the urine. The urine turns black upon exposure to the air. In such persons, the darkenings of
cartilaginous region such as ear pinna takes place.

Albinism

The persons with recessive allele aa genes donot produce the tyrosinase enzyme which is
needed by melanocytes for converting DOPA( 3,4- dihydroxy-phenyl-alanine) into melanin, a
dark brown pigment. As a result, in an albino patient melanocytes are present in normal
number in their skin, hair, iris of eyes etc but lack in melanin pigment.

Sickle-cell anaemia

This disease is caused by a autosomal mutant allele, Hb s..In homozygous condition, this gene
causes production of abnormal haemoglobin called haemoglobin S. The abnormal haemoglobin
is sickle shaped and causes vascular obstruction. This results severe anaemia and death of the
patient due to damaged heart, kidney, spleen and brain.

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Eugenics (Gr. Eugenes= well born)

Eugenics deals with the application of the laws of genetics to the improvement of human race.
The term was given by Francis Galton in 1885. The science of eugenics can be defined as a
science of well-born, improving the inborn qualities of race and obtaining the better heritage by
judicious breeding. The development of all organism including the human individuals depends
on both heredity and environmental factors. For the best development both good heredity and
good environment are essential. The need of eugenics is apparent from the stand point of
education, sociology and civilization. Its aim to decrease abnormal and deficient populations so
that there is increase in normal and gifted population in the world as good human welfare. The
eugenics may be positive eugenics and negative eugenics.

Positive eugenics

The positive eugenics attempts to increase consistently better or desirable germplasm and and
thus to best germplasm of the society. The percentage of desirable trait can be increased by
adopting following measures:

1. Early marriage of those having desirable traits.

2. Subsidizing the fit.
3. Education
4. By avoiding germinal waste
5. Genetic counseling
6. Improvement of environmental conditions
7. Promotion of genetic research

Negative eugenics

The negative eugenics attempts to eliminate the defective germplasm of the society by
adopting following measures:

1. Sexual separation of defectives

2. Sterilization
3. Control of immigration
4. Regulation of marriage

Euphenics
The symptomatic treatment of genetic disease of man is called euphenics. The euphenics deals
with the control of the several inherited human disease, especially inborn errors of metabolism
in which the missing or defective enzymes has been identified. One example of this is the
condition known as phenylketonuria or pku, determined by an autosomal gene. Babies with
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these defects are unable to properly metabolize an amino acid, phenylalanine, the resulting
chemical imbalance cause severe mental retardation. Now it is possible to distinguish pku
homozygotes from normal individuals by testing the urine of all new born babies with ferric
choride. In affected children, the metabolic imbalance caused by the mutation will turn the
urine green. Once such child is detected, a diet free of phenylalanine is provided and child can
develop normally. So some can get rid of man from certain fatal genetic disease:

1. Intake of missing enzymes

2. Cure for inherited anemia
3. Increasing role of genetics to medicine

Genetic Engineering

Introduction
Genetic engineering, the artificial manipulation, modification, and recombination of DNA or
other nucleic acid molecules in order to modify an organism or population of organisms. The
term genetic engineering is generally used to refer to methods of recombinant DNA technology,
which emerged from basic research in microbial genetics. The techniques employed in genetic
engineering have led to the production of medically important products, including human
insulin, human growth hormone, and hepatitis B vaccine, as well as to the development of
genetically modified organisms such as disease-resistant plants. Genetic engineering (also
called genetic modification) is a process that uses laboratory-based technologies to alter the
DNA makeup of an organism. This may involve changing a single base pair (A-T or C-G), deleting
a region of DNA or adding a new segment of DNA. For example, genetic engineering may
involve adding a gene from one species to an organism from a different species to produce a
desired trait. Used in research and industry, genetic engineering has been applied to the
production of cancer therapies, brewing yeasts, genetically modified plants and livestock, and
more. Genetic engineering based on recombination was pioneered in 1973 by American
biochemists Stanley N. Cohen and Herbert W. Boyer, who were among the first to cut DNA into
fragments, rejoin different fragments, and insert the new genes into E. coli bacteria, which then
reproduced.

Process and techniques

Most recombinant DNA technology involves the insertion of foreign genes into the plasmids of
common laboratory strains of bacteria. Plasmids are small rings of DNA; they are not part of the
bacterium’s chromosome (the main repository of the organism’s genetic information).
Nonetheless, they are capable of directing protein synthesis, and, like chromosomal DNA, they

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are reproduced and passed on to the bacterium’s progeny. Thus, by incorporating foreign DNA
(for example, a mammalian gene) into a bacterium, researchers can obtain an almost limitless
number of copies of the inserted gene. Furthermore, if the inserted gene is operative (i.e., if it
directs protein synthesis), the modified bacterium will produce the protein specified by the
foreign DNA.

Applications

Genetic engineering has advanced the understanding of many theoretical and practical aspects
of gene function and organization. Through recombinant DNA techniques, bacteria have been
created that are capable of synthesizing human insulin, human growth hormone, alpha
interferon, a hepatitis B vaccine, and other medically useful substances. Plants may be
genetically adjusted to enable them to fix nitrogen, and genetic diseases can possibly be
corrected by replacing dysfunctional genes with normally functioning genes. Genes for toxins
that kill insects have been introduced in several species of plants, including corn and cotton.
Bacterial genes that confer resistance to herbicides also have been introduced into crop plants.
Other attempts at the genetic engineering of plants have aimed at improving the nutritional
value of the plant.

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Gene Therapy
Gene therapy involves altering the genes inside body's cells in an effort to treat or stop disease.
Genes contain DNA, the code that controls much of body's form and function. Genes that don't
work properly can cause disease. Gene therapy replaces a faulty gene or adds a new gene in an
attempt to cure disease or improve body's ability to fight disease. Gene therapy holds promise
for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes,
hemophilia and AIDS.

Gene therapy is used to correct defective genes in order to cure a disease or help your body
better fight disease. It is done for following purposes:

Replacing mutated genes

Some cells become diseased because certain genes work incorrectly or no longer work at all.
Replacing the defective genes may help treat certain diseases. For instance, a gene called p53
normally prevents tumor growth. Several types of cancer have been linked to problems with
the p53 gene. If doctors could replace the defective p53 gene, that might trigger the cancer
cells to die.

Fixing mutated genes

Mutated genes that cause disease could be turned off so that they no longer promote disease,
or healthy genes that help prevent disease could be turned on so that they could inhibit the
diseases.

Making diseased cells more evident to the immune system

In some cases, your immune system doesn't attack diseased cells because it doesn't recognize
them as intruders. Doctors could use gene therapy to train your immune system to recognize
the cells that are a threat.

Risks

This technique presents the following risks:

Unwanted immune system reaction Your body's immune system may see the newly
introduced viruses as intruders and attack them. This may cause inflammation and, in severe
cases, organ failure.

Targeting the wrong cells. Because viruses can affect more than one type of cells, it's possible
that the altered viruses may infect additional cells — not just the targeted cells containing

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mutated genes. If this happens, healthy cells may be damaged, causing other illness or diseases,
such as cancer.

Infection caused by the virus. It's possible that once introduced into the body, the viruses may
recover their original ability to cause disease.

Possibility of causing a tumor. If the new genes get inserted in the wrong spot in your DNA,
there is a chance that the insertion might lead to tumor formation.

Reference
Britannica, T. Editors of Encyclopaedia (2021, December 20). genetic engineering.

Encyclopedia Britannica. https://www.britannica.com/science/genetic- engineering

Kohli J (2002) Linkage and crossing over Inst. Cell Biol Univ of Berne, Berne,

Switzerland.

K.N Bhatia and Neelam Dhand (2014) Cell Biology and Genetics. Trueman

Publication, New Delhi.

M.P Arora and G.S Sandhu (2000) Genetics Himalaya publication Bombay.

P.S Dhami and J.K Dhami (2015) Text book of Zoology. Pradeep’s Publication

Jalandhar (India).

PS Verma and VK Agarwal 2012. Cell Biology, Genetics, Molecular Biology, Evolution and

Ecology: Evoloution and Ecology. S. Chand Publishing, 2004 ISBN 8121924421,

9788121924429

https://www.genome.gov/genetics-glossary/Genetic-Engineering

https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-
20384619

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