Mutation Rate In Humans Gets Measured By Direct Sequencing
Friday, August 28, 2009 - 23:57
in Biology & Nature
In 1935 one of the founders of modern genetics, J. B. S. Haldane, studied men in London with the blood disease hemophilia and estimated that there would be a one in 50,000 incidence of mutations causing hemophilia in the gene affected – the equivalent of a mutation rate of perhaps one in 25 million nucleotides across the genome. Others have measured rates at a few further specific genes or compared DNA from humans and chimpanzees to produce general estimates of the mutation rate expressed more directly in nucleotides of DNA. 16 scientists report today the first direct measurement of the general rate of genetic mutation at individual DNA letters in humans and show that those early estimates were spot on. read more