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

Am J Hum Genet. 2001 Feb;68(2):533-6. doi: 10.1086/318190. Epub 2000 Dec 29.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Family Health
  • Female
  • Gene Frequency*
  • Humans
  • Male
  • Molecular Sequence Data
  • Oocytes / metabolism*
  • Pedigree
  • Point Mutation / genetics*


  • DNA, Mitochondrial

Associated data

  • OMIM/540000