Article
Evaluating length heteroplasmy in the human mitochondrial DNA control region.
International journal of legal medicine - 1 Mar 2010
Forster Lucy, Forster Peter, Gurney Susan M R, Spencer Matthew, Huang Christopher, Röhl Arne, Brinkmann Bernd
Abstract excerpt
We present allelic data for three known and one new C-tract in the human mitochondrial DNA (mtDNA) control region, and we measure intergenerational mutation rates at such C-tracts. In detail, in a sample of 1,172 mtDNA sequences, we demonstrate the existence of an instability threshold of eight consecutive cytosines, at and above which the phenomenon of length heteroplasmy arises. To determine mutation rates, we...
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