Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF
Am J Hum Genet. 2001 68 (2): 533-6

PMID: 11133360 · PMCID: PMC1235288 · DOI:10.1086/318190

We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes.

MeSH Terms (10)

DNA, Mitochondrial Family Health Female Gene Frequency Humans Male Molecular Sequence Data Oocytes Pedigree Point Mutation

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