SNP SHOT OF HUMAN DISEASES
Past explorers heading into unknown territory had little idea of where they were going or how to know when they had arrived. Biologists investigating the uncharted human genome will be better prepared — maps to guide them through the sequence are being developed. A new method of preparing these ‘SNP’ maps is reported this week Nature (VOL. 407 NO. 6803 DATED 28 SEPTEMBER 2000), alongside one such chart for human chromosome 22.
David Bentley and colleagues at the Sanger Centre, Cambridge, UK, have charted 2,730 ‘single nucleotide polymorphisms’ (SNPs) on chromosome 22 (pp. 516-520). These events — the substitution of a ‘T’ nucleotide for ‘A’ for instance — cause most genomic variation, and finding them can help track disease. For diabetes sufferers, for example, SNPs in similar locations within the genome that are inherited with the disease could lead researchers to the gene responsible.
In a second paper (pp. 513-516), Eric Lander of Massachusetts Institute of Technology, Cambridge, USA, and colleagues describe a new technique used to generate SNP maps. ‘Reduced representation shotgun’ (RRS) sequencing analyses specific genome regions from several people and compares them for SNPs.
Both research groups are members of the SNP Consortium — an international collaboration aiming to discover and release 300,000 human SNPs.
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Message posted by: Trevor M. D'Souza