CYTOGENETICS

THE HUMAN GENOME

(MODULE 1)

Human Cytogenetics is a very fascinating topic. Essentially, Cytogenetics is a sub discipline of genetics,
that deals with the study of chromosomes. The course deals with the study of heredity and inheritance
associated with the human genome in line with genetic development, determinations of sex and defects
associated with human inheritance.

Latest technology is changing the way we look at this particular science. But a basic review of the
Human Genome is essential in understanding new tests for genetic disorders, new tools to solve problems.
Geneticists, find new and novel ways of applying the methods and technology that help us understand the
complexity of life.

Genome - Refers to the entire genetic material of an organism. The genome includes both the genes and the
noncoding DNA, as well as mitochondrial DNA and chloroplast DNA. The study of the genome is called
genomics.

Gene – Refers to unit of heredity which is transferred from a parent to offspring and is held to determine
some characteristic of the offspring. Genes are passed from parents to offspring and contain the information
needed to specify traits. The study of the gene is called genetics.

Genomics- branch of science that deals with the study of the genome.

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

CHROMOSOME - thread-like structures located inside the nucleus composed of made of protein and a single
molecule of deoxyribonucleic acid (DNA)

DNA – stands for Deoxyribonucleic acid. the chemical name for the molecule that carries genetic instructions
in all living things. It consists of two strands that wind around one another to form a shape known as a double
helix.

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 a s semantic when we talked about genetics.
RNA - stands for Ribonucleic Acid is a polymeric molecule essential in various biological roles in coding,
decoding, regulation and expression of genes. RNA and DNA are nucleic acids.

LEVELS OF GENETICS AND GENOMICS

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), and thymine (T). Genetic
information exists in the sequence of these nucleotides, and genes exist as stretches of sequence along the
DNA chain.

 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. Therefore, genomics involves studies that are conducted at the level of the genome.
 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
 Nitrogenous bases
o Purines
 is a heterocyclic aromatic organic compound that consists of two rings in their structure. It is
water-soluble. Purine also gives its name to the wider class of molecules, purines, which include
substituted purines and their tautomers. They are the most widely occurring nitrogen-containing
heterocycles in nature.

 Pyrimidines
 is an aromatic heterocyclic organic compound similar to pyridine. Contain only a six membered
nitrogen containing ring. In RNA the thymine is replaced by Uracil.
 interesting group of compound has diverse biological activities such as antimicrobial, CNS
depressant, anti-inflammatory, analgesic, anticonvulsant, anticancer, antihelmentic, antioxidant
and herbicidal.
 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.

 The main difference between purine and pyrimidines is that purines (adenine and thymine) contain a 6
membered nitrogen containing ring fused to an imidazole ring whereas pyrimidines (pyrimidines,
cytosine and uracil) contain only a 6 membered nitrogen containing ring.

 The backbone of the DNA strand is made from alternating phosphate and sugar groups

 Phosphate Group & Sugar

 The sugar in DNA is 2-deoxyribose, which is a pentose (five-carbon) sugar. The sugars 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.
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 used in predicting the risk of disease
involves screening currently-healthy individuals by genome analysis at the individual level.
o In medicine, research, industry and agriculture and can be used on a wide range of plants,
animals and microorganisms.
o 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, follistim (for treating infertility), human albumin, monoclonal
antibodies, antihemophilic factors, vaccines, and many other drugs.
o In research, organisms are genetically engineered to discover the functions of certain genes.
o 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.
o 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 or through traditional crossbreeding methods. The benefit and non-benefit of such
application are still being debated by policy makers and lobbyist.

APPLICATION OF GENETICS

 Technically there are four main points of Genetic applications:

1. Taxonomy
2. Agriculture
3. Medicine
4. Evolution

Taxonomy:

 Genetic characters like chromosome number and karyotypes are of taxonomic significance.
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.
 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. Such
karyotype is considered relatively advanced when compared with symmetrical karyotypes.
  The degree of chromosome homology is studied from chromosome pairing during meiosis. This gives
an idea about the relationship of parental species. Higher the homology, closer is the relationship
between the two species. Some species have B-chromosomes which help in the identification of such
populations.

Agriculture:

 Such contribution leads to:

 improvement of crop plants
 in terms of yield, quality, maturity duration, resistance to insects, diseases, salinity, drought.
Frost. Lodging and adaptability
 and in the improvement of domestic animals.
 Through selective breeding. Milk production in cows and buffaloes, meat production in
sheep’s, goats and pigs and egg production capacity in poultry have been significantly
improved through the application of genetic principles.
 Moreover, many improved breeds of pet animals like horse, dogs, cats, pigeon and rabbits
have been developed all over the world.

Medicine:

 Detection of Hereditary Diseases:

o at an early stage of life when it is possible to provide secondary cures in some cases. Refined
techniques such as 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:
o strains of fungi and bacteria have been isolated to greatly increase the yields of antibiotics
and other drugs. Besides these, genetics also helps in settling the disputed case of children
through blood group studies.

 Evolution:
o 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. New plant
species like Triticale have been evolved through the application of genetical
principles. Genetics has also helped in understanding the genetic origin of various
crop plants.

APPLICATION OF GENOMICS

 Predicting the disease risk at individual level

o By sequencing of Genome, thus can predict the risk of developing diseases brought on by a
single gene defect. However, since most diseases are polygenic or are brought on by
environmental factors; thus genome sequencing cannot predict the risk of acquiring these
diseases. Though Genome sequencing is becoming more reliable, but many scientists still
question if it reduces the risk of death from certain diseases such as prostate cancer.

 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 using experimental animals or live cells in the
laboratory, which help 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 an individual level.
 Metagenomics, the study of the collective genomes of multiple species that grow and interact in
an environmental niche, is often a better way to study microrganisms rather than pure culture.

Genomics and Biofuels

 Microbial genomics can be used to create new biofuels.

 The fungus Pichia has been extensively studied of its use in fermenting ethanol fuels.
 Microbes in the hindgut of termites have found 500 genes that may be useful in enzymatic destruction
of cellulose.
 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.
 Genomics is used in agriculture to develop plants with more desirable traits, such as drought and
disease resistance

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.
 Every cell in an individual organism has the same set of genes, but the set of proteins produced in
different tissues differ from one another and are dependent on gene expression.

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.