Icelandic genome map released

Icelandic company deCODE Genetics has updated the map of the human genome, estimated to give about five-fold greater resolution than the current draft.

The results, published in the June 10 issue of Nature Genetics, include the analysis of 5136 microsatellite markers and locations of approximately 2 million single nucleotide polymorphisms (SNPs), based on the genotyping of 869 parents and offspring from 146 Icelandic families.

The authors also reported 104 errors in the original draft sequence that can now be corrected using their data.

The deCODE data is being made freely available to researchers on request.

Dr John Barlow, Melbourne divisional manager of the Australian Genome Research Facility, said that the new results from deCODE were highly significant and useful in global terms, although a lot more work remained to be done on the human genome sequence.

Barlow said that approximately 1 in every 1000 nucleotides in the genome varied between individuals, suggesting that there were about 3 million SNPs in the human genome.

"They have identified underlying differences between individuals. It's a great place to start, it's useful for other studies to do the same thing," he said.

Barlow explained that to be useful, SNPs needed to be correlated to phenotypic variation. In many cases, combinations of SNPs rather than single mutations might predispose an individual to a disease or condition.

Australian studies under way

"The AGRF is in the process of establishing a third division in association with the Queensland Institute of Medical Research, which will use Sequenom technology for high-throughput SNP detection," Barlow said.

"The purpose is to do similar studies on Australian populations, particularly more isolated ones like Tasmania."

The new service is up and running under the direction of Dr Michael James, Barlow added. He explained that the new division offers a discovery service to identify SNPs and a detection service to correlate the SNPs with phenotypic variation.