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

D T Brown, Brown DT, Samuels DC, D C Samuels, E M Michael, Michael EM, Turnbull DM, D M Turnbull, P F Chinnery, Chinnery PF
American journal of human genetics · 2001 · vol. 68(2) , pp. 533–6 · doi:10.1086/318190 · PMID:11133360 · PMC1235288
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This study measured mutant mtDNA levels in human oocytes and found that random drift is the primary mechanism determining mutation load within individual oocytes.

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Abstract

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.

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MeSH descriptors

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

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europepmc
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pubmed
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