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Genome researcher analyze chromosome 7

BETHESDA, Md., July 10, 2003 A detailed analysis of the reference sequence of chromosome 7 has uncovered structural features that appear to promote genetic changes that can cause disease, researchers from the International Human Genome Sequencing Consortium said today.

In a study published in the July 10 issue of the journal Nature, a multi-institution team, led by the Washington University School of Medicine in St. Louis, reported it had sequenced 99.4 percent of the gene-containing region of chromosome 7 to an accuracy of greater than 99.99 percent. The team also described its analysis of this highly accurate reference sequence, an effort that took advantage of recently released data on the mouse genome to refine gene predictions and zero in on chromosomal regions that may be of special interest in understanding genetic diseases.

In addition to representing the largest chromosome to date to undergo detailed sequence analysis, chromosome 7 is significant because it has served as a pioneering chromosome for genomic and genetic studies. Researchers first developed genome mapping techniques on chromosome 7, and in the late 1980s, this chromosome was also the first to be searched by a then-novel technique called positional cloning in the successful hunt for the cystic fibrosis gene.

"Chromosome 7 has long been of interest to the medical community. Besides containing many genes that are crucial to development, this chromosome also holds the gene for cystic fibrosis and is frequently damaged in some types of leukemia and other cancers," said Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), which funded, and also participated in, the study. "This new analysis, coupled with our commitment to free and unrestricted access to sequence data, should further speed the discovery of genes on chromosome 7 related to human health and disease."

Among the study's most interesting results was the findi
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Contact: Geoff Spencer
spencerg@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
9-Jul-2003


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