SANGER PLAYS PART IN HapMap project

25 January 2003

The Wellcome Trust Sanger Institute is contributing to the International HapMap Project, launched in October 2002.

The US$100 million project, involving nine centres in five countries, will provide easier ways to pinpoint genes of medical importance, by creating an enhanced map of the human genome - a haplotype map.

To navigate around the three billion nucleotides of the human genome, researchers make use of landmarks or 'markers' at regular intervals. Particularly useful are single nucleotide polymorphisms (SNPs), single sites in the genome that differ between individuals.

There are at least 10 million different SNPs in the human genome, though, a number that makes them difficult to use on a large scale. However, SNPs that lie close to each other tend to be inherited together in blocks of DNA known as haplotypes. Haplotypes therefore provide a more practical tool, enabling researchers to work with a much more convenient number of markers.

To build a haplotype map, the International HapMap Project will collect DNA samples from groups of individuals to identify which SNPs are inherited together, and hence to identify the haplotype blocks and how they are arranged through the genome. This will differ between individuals and populations, so the project will sample from several different populations.

The haplotype map will be a powerful tool for scientists working on the genetic factors predisposing to human disease. The incidence of a disease can be compared with the inheritance of haplotypes, enabling researchers to identify parts of the genome associated with susceptibility to disease. In the long run, this will allow the use of haplotype-based predictions of disease susceptibility and greater opportunities for disease prevention.

The Sanger Institute, working with colleagues at the Wellcome Trust Centre for Human Genetics in Oxford, will be responsible for analysing 24 per cent of the genome. The project is being funded by a range of agencies in the five countries and data release will be coordinated by the SNP Consortium.

External links

• Human Genome Project at the Wellcome Trust Sanger Institute
• Wellcome Trust Centre for Human Genetics, Oxford
• SNP Consortium