Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes

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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Bibliographic Details
Published in:American journal of human genetics 2001-02, Vol.68 (2), p.533-536
Main Authors: Brown, D.T., Samuels, D.C., Michael, E.M., Turnbull, D.M., Chinnery, P.F.
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA, Mitochondrial - genetics
Errors of metabolism
Family Health
Female
Gene Frequency
Humans
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Molecular Sequence Data
Oocytes - metabolism
Pedigree
Point Mutation - genetics
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/318190