DNA study finds many genetic mutations are rare and recent
LOS ANGELES — Human DNA contains myriad individual differences that influence a host of traits, be they eye color or the ability to digest milk. Now a study shows that most of those tiny genetic variations are rare — and they arose in the very recent history of our species.
Joshua Akey, a geneticist at the University of Washington in Seattle, led a consortium of scientists who examined the DNA of 4,298 European Americans and 2,217 African-Americans. Limiting their analysis to the parts of the genome that contain instructions for making proteins, the study authors found more than 1 million sites where the building blocks of DNA — the nucleotides known by the letters A, C, G and T — varied in at least one of the subjects.
Most of those individual variants were rare, with each one found in fewer than 0.5 percent of the people in the sample. Nearly half of the mutations were detected in only one person, according to their report last month in the journal Nature.
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