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Icelandic gene map benefits the world


Navigating the human genome requires a map, and not just any atlas will do. Scientists have created a new genetic map that both checks and corrects the draft sequence of the human genome assembled by the International Human Genome Sequence Consortium. The new map reveals about 100 inaccuracies that can be corrected in the final version of the human genome sequence, which the consortium expects to publish in April 2003.

Bishop Gudbrandur Thorláksson’s map of Iceland, engraved by an unknown author in 1585. It is widely regarded as the first nearly complete survey of Icelandic settlements and places of interest. Provided by the National and University Library of Iceland.

"Finding mistakes is part of the nature of the human genome project, which improves with more suitable technologies and refinements," says Huntington F. Willard, president of the Research Institute of University Hospitals of Cleveland.

The best previous genetic map was the Marshfield map, created by the Marshfield Medical Research Foundation in Marshfield, Wisconsin. The new map by Decode genetics in Iceland includes a larger sample size and more families. Researchers at Decode examined the DNA of roughly 870 individuals from 146 Icelandic families.

The scientists mapped over 5,000 genetic markers—landmarks on the genome that can be used to map disease genes. They found differences in the order of these markers as compared to the draft human genome sequence. The researchers also included 2 million single-nucleotide polymorphisms (SNPs), the smallest changes in our genetic alphabet.

The Marshfield and Iceland maps sampled individuals of European ancestry. Do human populations have different genetic maps? "There could be differences, but at this point, we just don't know," says James L. Weber, director of the Center for Medical Genetics at Marshfield Medical Research Foundation and an author of the Marshfield map.

The Icelandic gene is available free of charge to scientists upon request. A number of private companies like Decode have recently made findings accessible to the public. "If Decode can provide the service to the community and still be successful in business, that's wonderful," Weber adds.

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Kong, A. et al. A high-resolution recombination map of the human genome. Nat Genet. Published online June 10, 2002.
Weber, J.L. The Iceland map. Nat Genet. Published online June 10, 2002.
Broman, K.W. et al. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63, 861-869 (September 1998).

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