MODULE 1: The Human Genome - thread-like structures located inside the

nucleus.
1.1 Genes & Genomes
- made up of protein and a single molecule of
GENES & GENOMES deoxyribonucleic acid (DNA).

GENOME
- refers to the entire genetic material of an
organism.
- includes genes, noncoding DNA, mitochondrial
DNA & chloroplast DNA.
GENOMICS
- branch of science that deals with the study of
the genome.
GENE
- are the basic units of heredity.
- are passed from parents to offspring and
contain the information needed to specify traits.
DNA
- "Deoxyribonucleic Acid"
- a nucleic acid.
- carries genetic instructions in all living things.
- consists of two strands that wind around one
another to form a double helix.
RNA
- "Ribonucleic Acid"
- a nucleic acid.
- a polymeric molecule essential in gene coding,
decoding, regulation and expression.
1.2 LEVELS OF GENETICS AND GENOMICS

- Genetics is a branch of biology concerned with

the study of genes, genetic variation, and
heredity in organisms.

- Genomics is the large-scale study of groups of

genes. These groups can be all the genes of an
organism, or multiple organisms.
- The full complement of genetic material in
an organism is called its Genome.

Fig. 1. Representation of a gene and its - Therefore, genomics involves studies that
composition are conducted at the level of the genome.

GENETICS
- branch of science that deals with the study of
genes.

- Technically, genes and genomics are two

different things.
Gene is the basic unit of heredity, while genome
is the entire genetic material of an organism.
However, they can be semantic when we talk
about genetics.

CHROMOSOME
- The molecular basis for genes is
deoxyribonucleic acid (DNA). DNA is composed
of a chain of nucleotides, of which there are
four types:
- adenine (A)
- cytosine (C)
- guanine (G)
- thymine (T)
- Genetic information exists in the sequence of
these nucleotides, and genes exist as stretches
of sequence along the DNA chain.
- At the molecular level, genes are regions of
DNA which are made of:
- different sequence of Nitrogenous bases
- Purine (Adenine and Guanine)
- Pyrimidine (Cytosine and Thymine)
- And the backbone of the DNA strand is
made from alternating phosphate and sugar
groups.
Fig. 2 DNA Composition
NITROGENOUS BASES
- Purines
- are heterocyclic aromatic organic
compounds that consists of two rings in
their structure
- are water-soluble
- are the most widely occurring
nitrogen-containing heterocyclics in nature.
- Pyrimidines
- are aromatic heterocyclic organic
compounds similar to pyridine.
- Pyridines - any class of organic
compounds of the aromatic heterocyclic
series characterized by a 6-membered ring
structure.
- in RNA the Thymine is replaced by Uracil.
- have diverse biological functions such as
antimicrobial, CNS depressant,
anti-inflammatory, analgesic,
anti-convulsant, anti-cancer,
anti-helminthic, antioxidant and herbicidal
activities.
MAIN DIFFERENCE between Purines &
Pyrimidines:
- Purines (Adenine and Guanine) contain a
6-membered nitrogen containing ring fused
to an imidazole ring.
- Pyrimidines (Thymine, Cytosine and Uracil)
contain only a 6-membered nitrogen
containing ring.
- Purines and Pyrimidines are found in meat
and meat products, especially internal organs
such as liver and kidney.
They are also found in poultry, fish and seafood,
asparagus cauliflower, spinach, mushrooms,
green peas, lentils, dried peas, beans, oatmeal,
wheat bran, wheat germ, and haws.
PHOSPHATE GROUP & SUGAR
- The sugar in DNA is 2-deoxyribose,
- which is a pentose(five-carbon) sugar.
They are joined together by phosphate groups
that form phosphodiester bonds between the
third and fifth carbon atoms of adjacent sugar
rings.

- These are known as the 3′-end (three prime
end), and 5′-end (five prime end) carbons,
- The prime symbol being used to distinguish
these carbon atoms from those of the base to
which the deoxyribose forms a glycosidic
bond.
1.3 Applications of Genetics & Genomics
APPLICATION OF GENETICS AND GENOMICS
- The science of Genetics and Genomics has
many applications.
The findings of genetics are technically used in
genomics.
Data on abnormalities in genes are used in
predicting the risk of disease which involves
screening currently-healthy individuals by
genome analysis at the individual level.
- In medicine, research, industry and agriculture
which can be used on a wide range of plants,
animals and microorganisms.
- In medicine, has been used to find cures for
diseases.
- Predicting the risk of disease involves
screening currently-healthy individuals by
genome analysis at the individual level.
- Experts uses databases analyzing the
genetics and genomics data.
- This has been used to mass-produce insulin,
human growth hormones, vaccines, and etc.
- In research, organisms are genetically
engineered to discover the functions of certain
genes.
- Industrial applications include transforming
microorganisms such as bacteria or yeast, or
insect mammalian cells with a gene coding for a
useful protein.
- Mass quantities of the protein can be
produced by growing the transformed
organism in bioreactors using fermentation,
then purifying the protein.
- In agriculture to create genetically-modified
crops or genetically-modified organisms
- such application creates combinations of
plant, animal, bacterial and virus genes that
do not occur in nature.
- The benefit and non-benefit of such
application are still being debated by policy
makers and lobbyist.
APPLICATION OF GENETICS
There are four main points of Genetic
applications
1. TAXONOMY
- Chromosome number & karyotypes are of
taxonomic significance.
a) Chromosome number helps in
classification of plants.
- For example, the genus Triticum to which
wheat belongs has been classified into
three groups, viz., diploid, tetrapod and
hexaploid.
a) Karyotype suggests primitive or advanced
feature of an organism.
-A karyotype with large differences
between the smallest and the largest
chromosome of the set is known as
asymmetric karyotype.
- Asymmetrical karyotypes are relatively
advanced than symmetrical karyotypes.
2. AGRICULTURE:
- improvement of crop plants
- in terms of yield, quality, maturity
duration, resistance to insects, diseases, &
etc
- improvement of domestic animals
- through selective breeding, milk
production, meat production, egg
production
- many improved breeds of pet animals
have been developed all over the world.
3. MEDICINE:
- detection of hereditary diseases
- at an early stage of life when it is possible
to provide secondary cures in some cases.
- amniocentesis (fetus test) and fetoscopy
have made such cures possible.
- moreover, genetic diseases can be
prevented by advising future parents with
the help of family pedigrees.
- production of antibiotics
- strains of fungi and bacteria have been
isolated to greatly increase the yields of
antibiotics & other drugs.
 - genetics also helps in settling the disputed
case of children through blood group
studies.
4. EVOLUTION:
- natural and artificial selections have been
responsible for evolution of various crop
plants.
- however, selection is effective when
sufficient amount of variability exists in the
population in which selection has to be
practiced by 3 methods
- Polyploidy, Introgression, and Mutagenesis
have played significant role in the evolution
of various crop plants by inducing additional
genetic variability.
APPLICATION OF GENOMICS
a) Predicting the disease risk at individual
level
- By sequencing of Genome, this can
predict the risk of developing diseases
brought on by a single gene defect.
- However, most diseases are polygenic or
are brought on by environmental factors
thus, making it unpredictable to find the
risk of acquiring these diseases.
- Genetic markers have been used in
forensic analysis.
- like in 2001 when the FBI used
microbial genomics to determine a
specific strain of anthrax that was found
in several pieces of mail.
d) Genomics and Proteomics
- Proteomics investigates how proteins
affect and are affected by cell processes or
the external environment.
- Within an individual organism, the
genome is constant, but the proteome
varies and is dynamic.
e) Cancer Proteomics
- Identifying those proteins whose
expression is affected by disease processes
can be used to improve screening and early
detection of cancer.
- Different biomarkers and protein
signatures are being used to analyze each
type of cancer.
- A future goal of cancer proteomics is to
have a personalized treatment plan for
each individual.

b) Pharmacogenomics, Toxicogenomics, and

Metagenomics
- Pharmacogenomics
- involves evaluating the effectiveness
and safety of drugs on the basis of
information from an individual’s genomic
sequence.
- Genomic responses to drugs can be
studied to indicate the potentially toxic
effects of a drug.
- Personal genome sequence information
can be used to prescribe medications that
will be most effective and least toxic on the
patient.
- Metagenomics
- is the study of the collective genomes
of multiple species that grow and
interact in an environmental niche

c) Genomics and Biofuels

- Microbial genomics can be used to create
new biofuels.