2011-07-02T12:20:00.000-07:00

GENOME PROJECT

BEGINNINGS

· What is the Human

Genome Project?

The Human Genome Project is one of the most exciting endeavors ever undertaken, comparable in size and importance with the programmes which put man on the Moon. It is a 15-year effort to identify all the genes in human DNA (the human genome), and to determine the sequences of the 3 billion chemical ‘bases’ that make up human DNA. DNA (deoxyribonucleic acid) is a biological code found in all living thing. It is made up of four similar chemicals called ‘based’ or ‘nucleotides’ A,T,C and G. Organisms use this DNA code to produce proteins and build all their component parts.

· Mapping the

human genome

According to the Genome Database (GDB), the public repository for human genome mapping statistics, by March 1998, 6,147 genes had been mapped to chromosomal locations. In addition, a further 39,000 genes have been identified but their locations have yet to be assigned. (To find a constantly updated gene count, visit the GBD web site at and 19 were produced, plus moderate resolution maps of chromosomes 3, 11, 12 and 22. The first non human whole genome was sequenced from the bacterium Homophiles influenzae and later that year sequencing from the smallest bacterium.

APPLICATIONS

· Research reveals clues to

why people get diseases

Changes in a single base sequence within a gene can produce an inappropriate protein and prompt the development of a disease. Researchers are looking at diseases including cancer, heart disease and AIDS to find which genes are altered. Illnesses such as sickle cell anemia and cystic fibrosis are caused by alleles (different versions of the same gene) that produce proteins so unlike the original that they do not work.

· New drugs promise

personalized gene therapy

Two US companies, Incyte Pharmaceuticals and Human Genome Sciences have set up their own private genome projects and are using short cuts to sequence thousands of genes. Genes themselves make up only about 2% of the total DNA the role of the rest is imperfectly understood, but is often referred to as ‘junk’. These companies are working to discover and sequence only the active genes and are collaborating with big pharmaceutical companies to allow them to develop new drugs.

· DNA chips allow

rapid laser screening

In order to reap the rewards of the Human Genome Project, rapid screening techniques will need to be developed Most current methods are messy. Lengthy and expensive. Now something better is in sight – a ‘chip’ that will identify a place of DNA from among a small number of known variants.

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