The mutation rate of the human mtDNA deletion mtDNA{sup 4977}
- Univ. of Colorado Health Science Center, Denver, CO (United States)
- Colorado School of Mines, Golden, CO (United States)
- Univ. of California, Los Angeles, CA (United States); and others
The human mitochondrial mutation mtDNA{sup 4977} 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 mtDNA{sup 4977} in cultured human cells is 5.95 x 10{sup {minus}8} per mitochondrial genome replication. This method can be applied to specific chromosomal, as well as mitochondrial, mutations. 17 refs., 1 fig., 1 tab.
- OSTI ID:
- 476747
- Journal Information:
- American Journal of Human Genetics, Vol. 59, Issue 4; Other Information: PBD: Oct 1996
- Country of Publication:
- United States
- Language:
- English
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