HUMAN GENOME

Human Genome is the sum total of the DNA present in an organism (nuclear DNA and extranuclear DNA like mitochondria DNAl ) within chromsomes which contains information needed to build and maintain humans.
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• Human Genome is composed of 46 distant chromosomes, 22 pairs of autosomal chromosomes +one pair of sex chrmosomes( XX or xy).
  XX sex chromosomes are present in females and XY in males. Any variation from this normal make up results in abnormal human genome and therefore altered manifestations of genome.

HUMAN GENOME PROJECT

• Human Genome Project is an international effort which was launched with the main aim to decode a total of approximately 3 bilion DNA base pairs containing estimated 25000 30000 genes.
  
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• The Individual Human Genome contains only about 1.5% of the total length serving as protein-coding regions known as axons and the rest of the genome is non-coding which is known as intronsor ** junk DNA**. In humans certain unique proteins are also synthesized by certain biological processes like DNA rearrangements and pre-mRNA splicing.

• Recent studies however have shown that introns also have some biochemical role.One such study is conducted by a research project named ENCODE (Encyclopedia of DNA elements ).Its aim is to study function and evolutionary origin of junk DNA regions.

Benefits of Human Genome Project

• Improved diagnosis of disease
  Knowledge of genetics opened new horizons of diagnosis in etiology of disease. It has now become possible to think on genetic basis of diseases and therfore has improved diseses diagonostics.

• Gene therapy
  Dna fragments wikimedia commons

Gene therapy is one among the latest modalities of treatment option in cases which were previously declared uncurable.With the help of gene therapy it is now possible to replace the mutated gene with normal gene or to mute the mutated gene and also it is possible to introduce a new gene which one expression results in production of substances which help recipient to fight the target disease.

• Earlier detection of genetic predisposition to the disease
  One classical example in this regard is prenatal genetic diagnosis in which fetal tissue samples are taken via amniocentesis or chorionic villus Sampling and subjected to battery of tests like cytogenetic, biochemical, and molecular tests to detect abnormalities in chromosome structure, protein function, or DNA sequence, respectively.

• Pharmacogenomics
  It combines knowledge of pharmacology with knowledge of genetics. Pharmacogenomics is the study of impact of genes on the action of drugs.Normally the anticipated action of drugs is based on action shown by drugs in a particular sample of population taken for clinical trial. But pharmacogenomics aims at individualisation of action of drug therapy as per patient's genetic make up to avoid adverse effects and make use of right drug for right person.
  
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• Identify potential suspects via DNA on Crime scene and exonerate the wrongfully accused.

• Established paternity and other family relationships.DNA strands from multiple sites of genetic material of child are compared with that of parents. This method is 100% accurate in establishing paternity.In comtraat ABO blood group matching can be used to exclusion but not for establishing paternity.

• Match organ donors with recipients in therapeutic programs.Different methods of tissue typing are employed to check compatibility of prospective organ donor and recipient.

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Refrences

Us National library of medicine

NCBI

wikipedia

ACOG

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