INTRODUCTION

Cells are the smallest functional unit of the body and are often called the
building block of life. They are grouped together to form tissues, each of which
has a specialised function. E.g. blood, muscle, bone. Different tissues are grouped
together to form organs e.g. heart, stomach, and brain. Organs are grouped
together to form systems, each of which performs a particular function that
maintains homeostasis and contributes the health of the individual. For example
the digestive system is responsible for taking in, digesting and absorbing food
and involves a number of organs, including the stomach and intestines.
STRUCTURE AND FUNCTION
The structure of cells varies according to the type and purpose of the cell (for
example, which functions it is performing and in which part of the body).
All cells contain organelles. These are structures within the cell that are
specialised for particular functions. The following diagram illustrates a single
cell and simple representations of key organelles:

A cell consists of plasma membrane inside which there are a number of

organelles floating in a watery fluid called cytosol. Organelles are small
structures with highly specialised functions, many of which are contained
within a membrane. They include the nucleus, mitochondria, ribosome,
endoplasmic reticulum, Golgi apparatus, Lysosomes, microfilaments and micro
tubules.
Organelle

Structure/Function

Cell Membrane

The cell membrane keeps the cell together by containing

the organelles within it. Cell membranes are selectivelypermeable, allowing materials to move both into and
outside of the cell.
The centrosomes contain the centrioles, which are
responsible for cell-division.
Cytoplasm is a jelly-like substance that is sometimes
described as "the cell-matrix". It holds the organelles in
place within the cell.
The goli apparatus of a cell is usually connected to an
endoplasmic reticulum (ER) because it stores and then
transports the proteins produced in the ER.
Lysosomes are tiny sacs filled with enzymes that enable
the cell to utilize its nutrients. Lysosomes also destroy the
cell after it has died, though there are some circumstances
(diseases/conditions) in which Lysosomes begin to 'breakdown' living cells.
"Microvilli" is the pural form; "Microvillus" is the singular
form. Microvilli are finger-like projections on the outersurface of the cell. Not all cells have microvilli. Their
function is to increase the surface area of the cell, which is
the area through which diffusion of materials both into,
and out of, the cell is possible.
"Mitochondria" is a plural term; which is appropriate as
these are not found alone. The quantity of mitochondria
within cells varies with the type of cell.
These are the energy producers within the cell. They
generate energy in the form of Adenosine Tri-Phosphate
(ATP). Generally, the more energy a cell needs, the more
mitochondria it contains.
The nuclear membrane separates the nucleus and the

Centrosomes
Cytoplasm

Golgi Apparatus

Lysosomes

Microvilli

Mitochondria

Nuclear

Membrane
Nuclear Pore

Nucleolus
Nucleus

Ribosome
Rough
Endoplasmic
Reticulum (RER)

Smooth
Endoplasmic
Reticulum (SER)

nucleolus from the rest of the contents of the cell.

Nuclear pores permit substances (such as nutrients, waste,
and cellular information) to pass both into, and out of, the
nucleus.
The nucleolus is responsible for the cell organelles (e.g.
Lysosomes, ribosome, etc.).
The nucleus is the "Control Center" of the cell, which
contains DNA (genetic information) in the form of genes,
and also information for the formation of proteins.
Information is carried on chromosomes, which are a form
of DNA.
Ribosome interpret cellular information from the nucleus
and so synthesize appropriate proteins, as required.
"Rough" indicates that there is ribosome attached to the
surfaces of the endoplasmic reticulum. The endoplasmic
reticulum is where proteins and lipids are produced within
the cell, and is also concerned with the transport of these
materials within the cell.
"Smooth" indicates that there is no ribosome attached to
the surfaces of the endoplasmic reticulum. The
endoplasmic reticulum is where proteins and lipids are
produced within the cell, and is also concerned with the
transport of these materials within the cell.

CELL DIVISION
Cell division is the process by which a parent cell divides into two or more
daughter cells. Cell division is usually a small segment of a larger cell cycle.
Cell division in multi cellular organism enables the organism to grow larger
while the cells remain small. There are two types of cell division.
1. Mitosis
2. Meiosis
MITOSIS: Mitosis is the process by which a eukaryotic cell separates the
chromosomes in its cell nucleus into two identical sets in two nuclei. Mitosis is
beginning with fertilized egg or zygote, cell division is an ongoing process. The
period between two successive division is called the Interphase. In mitosis there
are two important events,
Replication of DNA in the form of 23 pairs of chromosome.
Division of the cytoplasm.

The process of mitosis is divided into 6 stages.

The Interphase
Prophase
Metaphase
Anaphase
Telophase
Cytokinasis.

Interphase
DNA has replicated, but has not formed the condensed structure of
chromosome. They remain as loosely coiled chromatin.
The nuclear membrane is still intact to protect the DNA molecules from
undergoing mutation

Interphase is divided into three phases

1. G1 (first gap): Cell grows by producing proteins and cytoplasmic
organelles.
2. S (synthesis): Continues to grow as it duplicates its chromosomes.
3. G2 (second gap): Grows more and prepares for mitosis.
Prophase

The genetic material in the nucleus is in a loosely bundled coil called

chromatin. At the onset of prophase, chromatin condenses together into a
highly ordered structure called a chromosome. Since the genetic material
has already been duplicated earlier in S phase, the replicated
chromosomes have two brother chromatids, bound together at the
centromere by the cohesion complex.
The nuclear membrane and nucleolus are no longer visible.
The spindle apparatus has migrated to opposite poles of the cell.

Metaphase
The spindle fibres attach themselves to the centromeres of the
chromosomes and align the chromosomes at the equatorial plate, an
imaginary line that is equidistant from the two centrosomes poles.
Unattached kinetochores generate a signal to prevent premature
progression to anaphase without all chromosomes being aligned.

Anaphase
The spindle fibres shorten and the centromere splits, separated sister
chromatids are pulled along behind the centromeres.
There are two stages in anaphase called,
Early: Early anaphase is usually defined as the separation of the
sister chromatids
Late anaphase: Late anaphase is the elongation of the microtubules
and the chromosomes being pulled farther apart.
At the end of anaphase, the cell has succeeded in separating identical copies of
the genetic material into two distinct populations.

Telophase
The chromosomes reach the poles of their respective spindles, and then
the spindle fibres disintegrate.
Corresponding sister chromosomes attach at opposite ends of the cell. A
new nuclear envelope, using fragments of the parent cell's nuclear
membrane, forms around each set of separated sister chromosomes.
Nuclear envelope reform before the chromosomes uncoils.

Cytokinasis
This is the last stage of mitosis. It is the process of splitting the daughter
cells apart. A furrow forms and the cell is pinched in two.
Each daughter cell contains the same number and same quality of
chromosomes

MEIOSIS:
Meiosis is a reductive cell division. It involves two divisions to produce four
non-identical daughter cells each containing half the number of chromosomes of
the parent cell.
Meiosis occurs in all organisms carrying out sexual reproduction. Meiosis
reduces the number of chromosomes by half, so that when fertilization occurs,
the number of chromosomes would be re established. If meiosis did not occur,
fusion of gametes would result in a doubling of the chromosomes for each
successive sexually reproduced generation.
Genetic Variation. Meiosis provides opportunities for new combinations of
genes to occur in the gametes. This leads to genetic variation in the offspring
produced by random fusion of the gametes.
Process Of Meiosis
It include,
1. Meiosis I
2. Meiosis II
MEOISIS I
Prophase I
The prophase of the first meiotic division is prolonged and is usually
divided into 4 stages

Leptotene
Zygotene
Pachytene
Diplotene
Leptotene : the chromosomes become visible in this stage. Chromosomes
appear as single strands. These cannot be distinguished in this stage

Zygotene :Homologous chromosomes pair side by side. Each gamete

consist of 23 pairs chromosomes. The two chromosomes of each pair
come to lie parallel to each other and are closely opposed. This pairing of
chromosomes is also referred to as conjugation or synopsis. The two
chromosomes together constitute a bivalent.
Pachytene: in this phase the bivalent has four chromatid in it and is called
a tetrad. The two central chromatids become coiled over each other, so
they cross each other at a number of points. This is called crossing over.
At the site where the chromatids become adherent, the points of
adherence are called chiasmata.
Diplotene: The two chromosomes of a bivalent try to move apart, the
chromatids involved in crossing over break at the point of crossing over
break at the points of crossing and the loose pieces become attached to
the opposite chromatid.
Meta phase I
The nuclear membrane has disappeared
Spindle has formed
Chromosomes are attached by centromere
Anaphase I
One entire chromosomes of the pair moves to either pole
Note that the centromere does not divide
Telophase I
Note that the chromosomes in each cell have been reduced to half
the diploid number
MEOISIS II
The first meiotic division is followed by a short Interphase. This differs from
the usual Interphase in that there is no duplication of DNA. Such duplication is

unnecessary as chromosomes of cells resulting from the first division already

possess two chromatids each.
The second meiotic division is similar to mitosis. However because of the
crossing over that has occurred during the first division, the daughter cells are
not identical in genetic content.
Comparison with Mitosis
Mitosis
No. of
divisions
Events in
Prophase

Meiosis

A single division resulting in

two cells.
Chromosomes do not
associate with each other.

Two divisions resulting in

four cells.
Paring of homologous
chromosomes.

No chiasmata formed.

Chiasmata form between

non-sister chromatids of
homologous chromosomes.
Pairs of homologous
chromosomes are arranged
on the equator of the spindle.

Events in
metaphase

Individual chromosomes are

arranged on the equator of
the spindle.

Events in
anaphase

Centromere splits and

chromatids separate.

The chromatids stay joined

and the homologous
chromosomes separate.

Chromosome Daughter cells have the same Daughter cells have half the
number in
number of chromosomes.
number of chromosomes.
daughter
cells
Genetic
variation in
daughter
cells

Daughter cells are

genetically identical with
each cell and with the parent
cell.

Daughter cells are

genetically different with
each cell and with the parent
cell.

Occurrence

May occur in all parts of the

body.

Meiotic division is restricted

to the gonads.

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GENES
Genetics deals with the molecular structure and function of genes, with
gene behaviour in the context of a cell or organism (e.g. dominance and
epigenetics), with patterns of inheritance from parent to offspring, and with
gene distribution, variation and change in populations
An official definition: According to the official Guidelines for Human Gene
Nomenclature, a gene is defined as "a DNA segment that contributes to
phenotype/function. In the absence of demonstrated function a gene may be
characterized by sequence, transcription or homology."

Genes are segments of DNA located on chromosomes. Genes exist in

alternative forms called alleles. Alleles determine distinct traits that can
be passed on from parents to offspring. The process by which genes are
transmitted was discovered by Gregor Mendel and formulated in what is
known as segregation.
Each cell in the human body contains about 25,000 to 35,000 genes,
which carry information that determines the traits. (Traits are
characteristics inherit from the parents; this means parents pass some of
their characteristics on to offspring through genes.
For example, if both of your parents have green eyes, you might inherit
the trait of green eyes from them. Or if your mom has freckles, you might

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inherit that trait and wind up with a freckled face. And genes aren't just in
humans all animals and plants have genes, too.
Genes hang out all lined up on thread-like things called chromosomes.
Chromosomes come in pairs, and there are hundreds, sometimes
thousands, of genes in one chromosome. The chromosomes and genes are
made of DNA, which is short for deoxyribonucleic acid.
History of the gene: 1869-1970:

1869 - The chemical material DNA is discovered in cells but its real
functions are not known.
1909 - The term "gene" is first used and the chemical composition of
DNA is discovered.
1920 - Chromosomes are proposed as the mechanism by which inherited
characteristics are passed on.
1944 - DNA is first connected to the inheritance of traits.
1951 - The first sharp X-ray diffraction photographs of DNA are
obtained.
1953 - Crick and Watson describe the structure of DNA.
1956 - DNA is made artificially.
1966 - DNA is found to be present not only in chromosomes but also in
the mitochondria.
1969 - The first single gene is isolated.
1970 - The first artificial gene is made.

Gene Therapy
Gene therapy uses the technology of genetic engineering to cure or treat a
disease caused by a gene that has changed in some way. This is a new kind of
medicine, and scientists are still doing experiments to see if it works. One
method they are trying is replacing sick genes with healthy ones. Gene therapy
trials where the research is tested on people and other research may lead
to new ways to treat or even prevent many diseases

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CHROMOSOMES
The nucleus contains the bodys genetic material, which directs the
activities of the cell. This is built from the DNA and proteins called histones,
coiled together forming a fine network of threads called chromatin. During cell
division the chromatin replicates and becomes more tightly coiled forming
chromosomes.
The word chromosome comes from the Greek word chroma colour and
soma body. Chromosomes are the vectors of heredity. A chromosome is
formed from a single DNA molecule that contains many genes.
STRUCTURE OF CHROMOSOMES

1.
2.
3.
4.

Chromatid
Centromere
Short arm
Long arm

5.

Chromatin is the complex of DNA and protein found in the eukaryotic

nucleus. During the stage of cell division chromatin strands become more
condensed and make the chromosome visible. It form the classic four arm
structure a pair of sister chromatids attached to each other at the Centromere.
The shorter arm are called p arm and the longer arms are called q arms.

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TYPES
During inter phase two types of chromatin can be distinguished,
Euchromatin
Hetero chromatin
Euchromatin: which consist of DNA that is active
Heterochromatin: which consist of mostly inactive DNA. Hetero chromatin
can be further distinguished in to two types,
Constitutive hetero chromatin: This is never expressed. It is
located around the Centromere and usually contains repetitive
sequences.
Facultative hetero chromatin: This is sometimes expressed.
CHROMOSOMES DURING CELL DIVISION.
Inter phase chromatin
Individual chromosomes cannot be distinguished at this stage. They
appear in the nucleus as a homogeneous tangled mix of DNA and protein.
Metaphase chromatin
In the early stages of mitosis or meiosis the chromatin strands become
more condensed and form the four arm structure.
The long microtubules attach to the Centromere and two opposite end of
the cell. The micro tubules then pull the chromatids apart, so that each
daughter cell inherits one set of chromatids.
Once the cells have divided the chromatids are uncoiled and can function
again as chromatin.
The self assembled micro tubules form the spindle, which attach to
chromosomes at specialised structures called kinetochores.
HUMAN CHROMOSOMES
Chromosomes can be divided into two types,
Autosomes - somatic cells
Sex hormones - gametes
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Human cells are diploid and have 22 different types of autosome, each present
as two copies. The Autosomes contain the genetic heriditory information.
Certain genetic traits are linked to the sex and are passed on through the sex
hormones.
Chromosome comes in pairs. Normally each cell in the body has 22 pairs of
chromosomes and one pair of sex hormones, giving a total of 46 per cell. In that
half come from the mother; the other half come from the father.
Two of the chromosomes (the X and the Y chromosome) determine if you are
born a boy or a girl (your gender). They are called sex chromosomes:

Females have 2 X chromosomes.

Males have 1 X and 1 Y chromosome.

The mother always contributes an X chromosome to the child. The father may
contribute an X or a Y. Therefore, it is the father that determines the gender of
the child.
CHROMOSOMAL ABERRATIONS
Chromosomal aberrations are disruptions in the normal chromosomal content of
a cell, and are a major cause of genetic conditions in humans. The gain or loss
of DNA from chromosomes can lead to a variety of genetic disorders. Human
examples include:

Cri du chat, which is caused by the deletion of part of the short arm of
chromosome 5. "Cri du chat" means "cry of the cat" in French, and the
condition was so-named because affected babies make high-pitched cries
that sound like those of a cat. Affected individuals have wide-set eyes, a
small head and jaw, moderate to severe mental health issues, and are very
short.
Down syndrome, usually is caused by an extra copy of chromosome 21
(trisomy 21). Characteristics include decreased muscle tone, stockier
build, asymmetrical skull, slanting eyes and mild to moderate
developmental disability.
Edwards syndrome, which is the second-most-common trisomy; Down
syndrome is the most common. It is a trisomy of chromosome 18.
Symptoms include motor retardation, developmental disability and
numerous congenital anomalies causing serious health problems. Ninety
percent die in infancy; however, those that live past their first birthday
usually are quite healthy thereafter. They have a characteristic clenched
hands and overlapping fingers.
15

Idic15, abbreviation for Isodicentric 15 on chromosome 15; also called

the following names due to various researches, but they all mean the
same; IDIC(15), Inverted duplication 15, extra Marker, Inv dup 15,
partial tetrasomy 15
Jacobsen syndrome, also called the terminal 11q deletion disorder. This
is a very rare disorder. Those affected have normal intelligence or mild
developmental disability, with poor expressive language skills. Most have
a bleeding disorder called Paris-Trousseau syndrome.
Klinefelter's syndrome (XXY). Men with Klinefelter syndrome are
usually sterile, and tend to have longer arms and legs and to be taller than
their peers. Boys with the syndrome are often shy and quiet, and have a
higher incidence of speech delay and dyslexia. During puberty, without
testosterone treatment, some of them may develop gynecomastia.
Patau Syndrome, also called D-Syndrome or trisomy-13. Symptoms are
somewhat similar to those of trisomy-18, but they do not have the
characteristic hand shape.
Small supernumerary marker chromosome. This means there is an
extra, abnormal chromosome. Features depend on the origin of the extra
genetic material. Cat-eye syndrome and isodicentric chromosome 15
syndromes (or Idic15) are both caused by a supernumerary marker
chromosome, as is Pallister-Killian syndrome.
Triple-X syndrome (XXX). XXX girls tend to be tall and thin. They
have a higher incidence of dyslexia.
Turner syndrome (X instead of XX or XY). In Turner syndrome, female
sexual characteristics are present but underdeveloped. People with Turner
syndrome often have a short stature, low hairline, abnormal eye features
and bone development and a "caved-in" appearance to the chest.
XYY syndrome. XYY boys are usually taller than their siblings. Like
XXY boys and XXX girls, they are somewhat more likely to have
learning difficulties.
Wolf-Hirschhorn syndrome, which is caused by partial deletion of the
short arm of chromosome 4. It is characterized by severe growth
retardation and severe to profound mental health issues.

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DNA
DNA is a nucleic acid that contains the genetic instructions used in the
development and functioning of all known living organism. The main role of
DNA molecule is the long term storage of information.

Structure of DNA
Deoxyribonucleic Acid (DNA) is gets its name because it contains
deoxyribose (a five-sided sugar).
The molecule is made up of two strands that are held together by
hydrogen bonds ( hydrogen bond - A type of weak chemical bond formed
when the slightly positive hydrogen atom of a polar covalent bond in one
molecule is attracted to the slightly negative atom of a polar covalent
bond in another molecule )
Each strand of DNA consists of a large number of nucleotides. Each
nucleotide is made up of a deoxyribose, a phosphate group and a
17

nitrogenous base (The building block of a nucleic acid, consisting of a

five-carbon sugar covently bonded to a nitrogenous base and a phosphate
group.)
There are 4 kinds of nitrogenous bases

Thymine (T)
Cytosine (C),
Adenine (A)
Guanine (G).

In the double stranded DNA, A always pairs with T and C always pairs with
G. This is called complementary base pairing.
Gene expression
The RNA molecule different from the DNA molecule
RNA has one more oxygen atom in the Ribose sugar than DNA
RNA contains the base Uracil (U) instead of Thymine (T).

Methods of gene expression

Genes contain the codes for the production of specific proteins. The
information contained within DNA is not directly converted to proteins, but
must first be transcribed in a process called DNA transcription. This process
takes place within the nucleus of our cells. Actual protein production takes
place in the cytoplasm of our cells through a process called translation with
Uracil (U).
Transcription: The process of transferring information of DNA from inside the
cell membrane to the outside is call Transcription.
This involves 4 steps,
Initiation
Elongation,
Termination and
Post-Transcription Processing

18

1. Initiation
An enzyme called RNA polymerase binds to a strand of DNA molecule at the
Initiation site.

2. Elongation
The RNA polymerase unwinds the DNA and add new nucleotides to the
growing strand of mRNA molecule. Once RNA polymerase has processed a
section of DNA, it rewinds the strand.

3. Termination
The newly formed transcripts fall away from DNA template and RNA
polymerase

19

4. Post Transcriptional Processing

The mRNA molecule is examined and useless information is removed and those
that are relevant are kept.

Translation:
In the last section, we mentioned that genetic codes on DNA in nucleus is
copied onto a mRNA molecule. The mRNA then move out of the nucleus. Here,
in the cell's cytoplasm, the proteins coded on the mRNA molecule will be
synthesized.
During Translation, a ribosome will attach itself onto the strand of mRNA
molecule waiting to be translated. It will cover a single triplet code at a
time.
The Ribosome has sockets where tRNA molecules can be inserted.
The tRNA molecules are linked to specific amino acids at one end, and
have 3 bases at the other end. The tRNA molecule whose bases are able
to pair with the triplet code on mRNA can enter the socket, and release its
amino acid before leaving the socket.
The ribosome will move on to the next triplet, and another tRNA will be
able to enter the socket. The process repeats itself until the end of the
mRNA molecule.
The amino acids that are released by the tRNA will join together to form
a linear chain. The sequence of amino acids is determined by the
sequence of triplets on the mRNA molecule.

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MUTATION
Definition
A Mutation occurs when a DNA gene is damaged or changed in such a way as
to alter the genetic message carried by that gene.
A Mutagen is an agent of substance that can bring about a permanent alteration
to the physical composition of a DNA gene such that the genetic message is
changed. Mutations are caused by radiation, viruses, transposons and mutagenic
chemicals, as well as errors that occur during meiosis or DNA replication.
Causes
Gene mutations occur in two ways: they can be inherited from a parent or
acquired during a persons lifetime. Mutations that are passed from parent
to child are called hereditary mutations or germline mutations (because
they are present in the egg and sperm cells, which are also called germ
cells). This type of mutation is present throughout a persons life in
virtually every cell in the body.
Mutations that occur only in an egg or sperm cell, or those that occur just
after fertilization, are called new (de novo) mutations. De novo mutations
may explain genetic disorders in which an affected child has a mutation
in every cell, but has no family history of the disorder.
Acquired (or somatic) mutations occur in the DNA of individual cells at
some time during a persons life. These changes can be caused by
environmental factors such as ultraviolet radiation from the sun, or can
occur if a mistake is made as DNA copies itself during cell division.
Acquired mutations in somatic cells (cells other than sperm and egg cells)
cannot be passed on to the next generation.
Two classes of mutations are spontaneous mutations (molecular decay) and
induced mutations.
Spontaneous mutations
Spontaneous mutations on the molecular level can be caused by:
Tautomerism A base is changed by the repositioning of a hydrogen
atom, altering the hydrogen bonding pattern of that base resulting in
incorrect base pairing during replication.
Depurination Loss of a purine base (A or G) to form an apurinic site
(AP site).
21

 Deamination Hydrolysis changes a normal base to an atypical base

containing a keto group in place of the original amine group.
Examples include C U and A HX (hypoxanthine), which can be
corrected by DNA repair mechanisms; and 5MeC (5-methylcytosine)
T, which is less likely to be detected as a mutation because thymine
is a normal DNA base.
Slipped strand mispairing - Denaturation of the new strand from the
template during replication, followed by renaturation in a different
spot ("slipping"). This can lead to insertions or deletions.
Induced mutations
Induced mutations on the molecular level can be caused by:
Chemicals
Hydroxylamine NH2OH
Base analogs (e.g. BrdU)
Alkylating agents (e.g. N-ethyl-N-nitrosourea). Chemical mutagens have
certain effects that then lead to transitions, transversions, or deletions.
Agents that form DNA adducts (e.g. ochratoxin A metabolites)
DNA intercalating agents (e.g. ethidium bromide)
DNA crosslinkers
Oxidative damage
Nitrous acid converts amine groups on A and C to diazo groups, altering
their hydrogen bonding patterns which leads to incorrect base pairing
during replication.
Radiation
Ultraviolet radiation (nonionizing radiation). Two nucleotide bases in
DNA cytosine and thymine are most vulnerable to radiation that can
change their properties. UV light can induce adjacent pyrimidine bases in
a DNA strand to become covalently joined as a pyrimidine dimer. UV
radiation, particularly longer-wave UVA, can also cause oxidative
damage to DNA.
Ionizing radiation
Viral infections
DNA has so-called hotspots, where mutations occur up to 100 times more
frequently than the normal mutation rate. A hotspot can be at an unusual
base, e.g., 5-methylcytosine.
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CLASSIFICATION
By effect on structure

Point mutations, often caused by chemicals or malfunction of DNA

replication, exchange a single nucleotide for another
Insertions add one or more extra nucleotides into the DNA. They are
usually caused by transposable elements, or errors during replication of
repeating elements (e.g. AT repeats)
Deletions remove one or more nucleotides from the DNA. Like
insertions, these mutations can alter the reading frame of the gene.
Large-scale mutations
Amplifications (or gene duplications) leading to multiple copies of all
chromosomal regions, increasing the dosage of the genes located within
them.
Deletions of large chromosomal regions, leading to loss of the genes
within those regions.
Chromosomal translocations: interchange of genetic parts from non
homologous chromosomes.
Interstitial deletions: an intra-chromosomal deletion that removes a
segment of DNA from a single chromosome, thereby apposing previously
distant genes.
Chromosomal inversions: reversing the orientation of a chromosomal
segment.
Loss of hetero zygosity: loss of one allele, either by a deletion or
recombination event, in an organism that previously had two different
alleles.
By effect on function

Loss-of-function mutations are the result of gene product having less or

no function. When the allele has a complete loss of function (null allele)
it is often called an amorphic mutation.
Gain-of-function mutations change the gene product such that it gains a
new and abnormal function. These mutations usually have dominant
phenotypes. Often called a neomorphic mutation.
Dominant negative mutations (also called antimorphic mutations) have an
altered gene product that acts antagonistically to the wild-type allele.
These mutations usually result in an altered molecular function
23

 Lethal mutations are mutations that lead to the death of the organisms
which carry the mutations
A back mutation or reversion is a point mutation that restores the original
sequence and hence the original phenotype.
By effect on fitness

A harmful mutation is a mutation that decreases the fitness of the

organism.
A beneficial mutation is a mutation that increases fitness of the organism,
or which promotes traits that are desirable.
A neutral mutation has no harmful or beneficial effect on the organism.
Such mutations occur at a steady rate, forming the basis for the molecular
clock.
A deleterious mutation has a negative effect on the phenotype, and thus
decreases the fitness of the organism.
An advantageous mutation has a positive effect on the phenotype, and
thus increases the fitness of the organism.
A nearly neutral mutation is a mutation that may be slightly deleterious or
advantageous, although most nearly neutral mutations are slightly
deleterious

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LAW OF INHERITANCE
DNA, the molecular basis for inheritance. Each strand of DNA is a chain of
nucleotides, matching each other in the center to form what look like rungs on a
twisted ladder.
Inheritance is defined as the acquisition of qualities and characteristics
from parents and ancestors.
Mendels law
Law of segregation
When a pair of organism reproduces sexually, their offspring randomly
inherit one of the two alleles from each parent. These observations of discrete
inheritance and the segregation of alleles are collectively known as Mendels
first law or the law of segregation.
Law of independence assortment
Organism has thousands of genes, and in sexually reproducing organisms
these genes generally assort independently of each other. The alleles of different
genes get shuffled between parents to form offspring with many different
combinations.
Patterns of inheritance
The science of genetics began with the applied and theoretical work of
Gregor Mendel in the mid-19th century, other theories of inheritance preceded
Mendel. Mendel deduced that inheritance depends upon discrete units of
inheritance, called factors or genes
Autosomal dominant inheritance: Autosomal traits are associated with a
single gene on an autosome (non sex chromosome) they are called dominant
because a single copy inherited from either parent is enough to cause these
traits to appear. This often means that one of the parents must also have the
same traits, unless it has arisen due to a new mutation. Examples of Autosomal
dominant traits and disorders are Huntingtons disease and achondroplasia.
Autosomal recessive inheritance: Autosomal recessive traits are one
pattern of inheritance for a trait, disease or disorder to be passed on through
families. For a recessive trait or disease to be displayed two copies of the trait or
disorder needs to be presented. The trait or gene will be located on a sex
chromosome because it takes two copies of a trait to display a trait; many
people can unknowingly be carries of a disease. From an evolutionary
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perspective, a recessive disease or trait can remain hidden for several

generations before displaying the phenotype. E.g. albinism, cystic fibrosis.
X linked and Y linked inheritance
X linked genes: X linked genes are found on the sex X chromosomes. X
linked genes just like autosomal genes have both dominant and recessive types.
Recessive X linked disorders are rarely seen in females and usually only affects
males. This is because males inherit their X chromosomes and all X linked
genes are will be inherited from the maternal side. Fathers only pass on their Y
chromosomes to their sons, so no X linked traits will be inherited from father to
son. E.g. haemophilia.
Y- linked genes : Y linked inheritance occurs when a gene, trait, or disorder is
transferred through the Y chromosomes. Since Y chromosome can only be
found in males, Y linked traits are not only passed on from father to son.
Lamarck developed two laws:
1. Law of use and disuse. "In every animal which has not passed the limit
of its development, a more frequent and continuous use of any organ
gradually strengthens, develops and enlarges that organ, and gives it a
power proportional to the length of time it has been so used; while the
permanent disuse of any organ imperceptibly weakens and deteriorates it,
and progressively diminishes its functional capacity, until it finally
disappears."
2. Inheritance of acquired traits. "All the acquisitions or losses wrought by
nature on individuals, through the influence of the environment in which
their race has long been placed, and hence through the influence of the
predominant use or permanent disuse of any organ; all these are
preserved by reproduction to the new individuals which arise, provided
that the acquired modifications are common to both sexes, or at least to
the individuals which produce the young."
Examples of Lamarckism would include:

Giraffes stretching their necks to reach leaves high in trees strengthen and
gradually lengthen their necks.
A blacksmith, through his work, strengthens the muscles in his arms. His
sons will have similar muscular development when they mature.

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HUMAN GENOME PROJECT

The Human Genome Project was a 13 year old mega project, that was launched
in the year 1990 and completed in 2003 and it was coordinated by the U.S.
Project goals were to

Identify all the approximately 20,000-25,000 genes in human DNA,

Determine the sequences of the 3 billion chemical base pairs that make up
human DNA,
store this information in databases,
Improve tools for data analysis,
Transfer related technologies to the private sector, and
Address the ethical, legal, and social issues (ELSI) that may arise from
the project.

In addition to the United States, the international consortium comprised

geneticists in the United Kingdom, France, Germany, Japan, China, and India.
The announcement of the essentially completed genome was in the year of in
April 2003. Key findings are
1. There are approximately 20,500 genes in human beings, the same range as in
mice and twice that of roundworms. Understanding how these genes express
themselves will provide clues to how diseases are caused.[citation needed]
2. Between 1.1% to 1.4% of the genome's sequence codes for proteins
3. The human genome has significantly more segmental duplications (nearly
identical, repeated sections of DNA) than other mammalian genomes. These
sections may underlie the creation of new primate-specific genes
4. At the time when the draft sequence was published less than 7% of protein
families appeared to be vertebrate specific.
Advantages of Human Genome Project:
Knowledge of the effects of variation of DNA among individuals can
revolutionize the ways to diagnose, treat and even prevent a number of
diseases that affects the human beings.
It provides clues to the understanding of human biology.

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HUMAN GENOMIC ERA

If the genomic era can be said to have a precise birth date, it was in the midst of
the appearance of the series, on April 14, 2003. That was when the international
effort known as the Human Genome Project put a close to the pre genomic era
with its announcement, that it had achieved the last of the project's original
goals, the complete sequencing of the human genome.
ADVANCES IN GENOMIC ERA
The use of genomics for the rapid identification of newly discovered
pathogens such as that involved in the severe acute respiratory syndrome
(SARS). The use of gene-expression profiling to assess prognosis and
guide therapy, as in breast cancer, the use of genotyping to stratify
patients according to the risk of a disease, such as the long-QT syndrome,
or myocardial infarction, the use of genotyping to shed light on the
response to certain drugs, such as antiepileptic agents, and the use of
genomic approaches in the design and implementation of new drug
therapies, such as imatinib for the hypereosinophilic syndrome, and to
improve our understanding of the role of specific genes in the causation
of common conditions, such as obesity. During this same brief period,
other notable genomics-based advances in our understanding of biology
and of health have included the first comprehensive analysis of human
chromosome 7, clarification of the male-specific region of the human Y
chromosome, and the identification of the gene responsible for progeria.
In recent months we have seen not only the promise of the genomic era
with respect to medicine, but also its pitfalls
Genomics provides powerful means of discovering hereditary factors in
disease. But even in the genomic era, it is not genes alone but the
interplay of genetic and environmental factors that determines phenotype.
CONCLUSION
While recognizing such challenges, we look forward with curiosity and
real hope to the advances of the next 50 years the first 50 years of the
genomic era. As evidenced by the Genomic Medicine series, today's researchers
and clinicians have already started to use the power of genomics to improve
health, and we anticipate that this is but a hint of the progress to come.

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BIBLIOGRAPHY
Book references
1.) Anne Waugh, Allison Grant. Ross and Wilson Anatomy and
physiology. Churchil Livingstone publication. 9th edition.
P no: 30 32.
2.) Brian. R. Shmaefsky. Anatomy and physiology. CBS publication.
P no: 97 106.
3.) Gerald. J. Tortora, Sandra Reynolds, Grahowski. Principles of
anatomy and physiology. Hyper Collins college publishers. 8 th
edition. P no: 68 87.
4.) Edwin. H. Mc. Conkey. Human genetics the molecular
revolution. Jones and Bartlett publishers. P no: 306 316.
5.) Peter. J. Russell. Fundamentals of genetics. Published by Addison
Wesley Longman. Second edition.
Website references
6.) http://www.fathom.com
7.) http://www.nejm.org
8.) http://www.wikipedia.org
9.) http://facultyclintoncc.sunny
10.)
http://ghr.n/m.nih.gov/handbook
Journals
11)

Cullum R, Alder O, Hoodless PA. Respirology. The next

generation: using new sequencing technologies to analyze gene
regulation. Nov 2010

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