Users' Guide to the Human Genome

A high-resolution recombination map of the human genome is an important new resource for applying genomics to create better medicine. A paper describing the map appears in the June 11, 2002, online issue of Nature Genetics and also in Nature.

The map provides the locations of more than 5,000 polymorphic microsatellite markers, which can be used to locate genes linked to diseases or other conditions. The locations of around two million single nucleotide polymorphisms (SNPs) have also been determined with reference to this new framework. The map has about five times the resolution of maps currently in use, says the developer, deCode Genetics (Reykjavik, Iceland; www.decode.com). This resolution has enabled the decode team to create detailed maps specific for each sex, revealing dramatic differences between recombination rates and patterns in men and women.

The decode team constructed the map by genotyping 869 volunteers, consisting of parents and offspring from 146 Icelandic families, with 5,136 microsatellite markers placed across the genome. By following how these markers were passed from parents to their children, deCode scientists were able to gain detailed and unprecedented insights into where recombinations occurred.

"This is a major achievement in human genetics and we are proud to be able to make our results and data available to researchers around the world,” said Dr. Kari Stefansson, CEO of deCode.




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