The human mitochondrial mutation mtDNA4977 is a 4,977-bp deletion that originates between two 13-bp direct repeats. We grew 220 colonies of cells, each from a single human cell. For each colony, we counted the number of cells and amplified the DNA by PCR to test for the presence of a deletion. To estimate the mutation rate, we used a model that describes the relationship between the mutation rate and the probability that a colony of a given size will contain no mutants, taking into account such factors as possible mitochondrial turnover and mistyping due to PCR error. We estimate that the mutation rate for mtDNA4977 in cultured human cells is 5.95 x 108 per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations.
|Original language||English (US)|
|Number of pages||9|
|Journal||American Journal of Human Genetics|
|State||Published - 1996|
ASJC Scopus subject areas