Map of Human Genetic Variation Complete

In a paper in the Oct. 27 issue of the journal Nature, more than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom and the United States describe the initial results from their public-private effort to chart the patterns of genetic variation that are common in the world’s population.

The results provide overwhelming evidence that variation in the human genome is organized into local neighborhoods, called haplotypes, which usually are inherited as intact blocks of information.

At the project’s outset in October 2002, the consortium set an ambitious goal of creating a human haplotype map, or HapMap, within three years.

The Nature paper marks the attainment of that goal with its detailed description of the Phase I HapMap, consisting of more than 1 million markers of genetic variation, called single nucleotide polymorphisms (SNPs).

The consortium is also nearing completion of the Phase II HapMap that will contain nearly three times more markers than the initial version and will enable researchers to focus their gene searches even more precisely on specific regions of the genome.

“This is the next logical step in our understanding of which genes are associated with particular diseases. This knowledge will ultimately revolutionalize the way we practice in medicine, particularly “pre-emptive” medicine, where we can intervene long before patients are stricken with disease,” said NIH director, Elias A. Zerhouni, M.D.

Read the full story at the National Institutes of Health site