Interest Rises In Dna Copy Number Variations-along With Questions

摘要

Philadelphia, pennsylvania-Like a kaleidoscope, the human genome keeps offering up new views. The latest, causing excitement here last week at the annual meeting of the American Society of Human Genetics, concerns duplicated or missing blocks of DNA, known as copy number variations (CNVs). Large CNVs, millions of DNA bases in length, have been detected for some time, for example, in children with mental retardation. But as geneticists peer closer, they are finding CNVs everywhere, in every size, all across the genome (Science, 7 September 2007, p. 1315). "Many of us in the field were just blown away when we realized how often all of us have regions of the genome that are missing or present in extra copies," says Jan Friedman of the University of British Columbia in Van-rncouver, Canada, who attended last week's meeting. "We just had no idea [the genome] was so plastic."