Pinpointing Individual Difference in the Human Genome

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Mapping A Road To Understanding Human Health

12/17/2003

Source: Cold Spring Harbor Laboratory

Tracking down genes involved in health and disease and the response

of patients to therapies is a principal goal of contemporary

biomedical research. In the December 18 issue of Nature, the

International HapMap* Consortium describes the new tools and

approaches it has developed that will enhance the ability of

scientists to identify disease-related genes and to develop

corresponding diagnostic and therapeutic measures.

Individual predisposition to disease and differential response to

therapies are determined in part by variations in DNA sequence

scattered throughout our genetic sequence called single-nucleotide

polymorphisms, or SNPs. Many regions of the human genome bear common,

telltale variations in DNA sequence that are termed " tag SNPs. " One

goal of the International HapMap Project is to map the locations of

representative tag SNPs in DNA samples from human populations with

ancestry from parts of Africa, Asia, and Europe.

Dr. Lincoln Stein, a bioinformaticist at Cold Spring Harbor

Laboratory in New York whose group is one of the major participants

in the HapMap project said, " The results of the HapMap project will

increase the power and reduce the cost of future large-scale genetic

association studies and thereby significantly speed the discovery of

genes involved in cancer, heart disease, and other common ailments. "

Dr. Bentley, Head of Genetics at the Wellcome Trust Sanger

Institute in Cambridge (UK) and the leader of another major group

involved with the project said, " The HapMap will be applicable to a

broad range of medical conditions that have a genetic component,

including common human diseases. Because it is vital that such a

resource is readily available, the groups contributing to this

international project will release their data and the resulting map

of variation as a public resource. In that way, we anticipate the

maximum medical benefit will accrue in the most rapid fashion. "

The HapMap Project is an international collaboration involving

researchers in the United States, Canada, China, Japan, Nigeria, and

the United Kingdom. The results generated will be applicable to all

human populations, and will be available to researchers around the

world.

The $120 million project was officially announced in October 2002 and

is expected to take three years to complete.

Since the announcement of the project, DNA samples have been obtained

and substantial amounts of variation data have already been mapped

and released. Preliminary analyses of the data confirm the utility of

the HapMap. The study published in Nature describes in detail the

project's scientific goals and methods.

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* haplotype map. Merrim-Webster defines haplotype as: a group of

alleles of different genes (as of the major histocompatibility

complex) on a single chromosome that are closely enough linked to be

inherited usually as a unit.