The scientists having put this idea forward came up with a new gene map, with chances of explaining the relation between certain genes and diseases.
Dr. Mark Walport, director of Britain's Wellcome Trust: "This important work will help identify genetic causes of many diseases."
Dr. Matthew Hurles and other colleagues having worked on the CNVs (copy number variants) study, added: "We estimate this to be at least 12 percent of the genome, similar in extent to SNPs. This has never been shown before. With these new tools, we and our clinical colleagues are able to find previously undetectable deletions or duplications of the genome in a patient. The CNV map now allows us to identify which of these changes are unique to the disease."
Turning away from DNA peculiarities rendering each of us unique, their gene map analyses the characteristics of the "cuts and copies" of large DNA segments, or CNVs (copy number variants).
Dr. Charles Lee of the Harvard Medical School in Boston, Massachusetts: "We're a patchwork of DNA sequences, gains and losses."
While the HGP, Human Genome Project, went micro into understanding human DNA by focusing on single nucleotide polymorphisms (SNPs), this new study observed differences on a macro level.
The team found 1447 different CNVs, making up for a total of 12pct of the human genome, with 285 CNVs responsible for schizophrenia, psoriasis, coronary heart disease or congenital cataracts.
James Lupski of the Department of Molecular and Human Genetics at the Baylor College of Medicine in Houston: "I believe this paper will change forever the field of human genetics. One can no longer consider human traits as resulting primarily from single base-pair changes or influenced only by SNPs."
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| Announcement | the SpotlightingNews team | Posted on Wednesday January 25th, 2006, 10:00:00 EST |