Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.

doi:10.1086/302009

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Article

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.

American journal of human genetics - 1 Sept 1998

Marchington D R, Macaulay V, Hartshorne G M, Barlow D, Poulton J

Abstract excerpt

We have examined oocytes from a patient with Kearn-Sayre syndrome caused by mtDNA rearrangements. In mtDNA diseases, mutant and wild-type mtDNA frequently coexist in affected individuals (the condition of heteroplasmy). The proportion of mutant mtDNA transmitted from mother to offspring is variab...

Topics

DNA Primers
DNA, Mitochondrial
Dimerization
Female
Gene Rearrangement
Genomic Imprinting
Humans
Kearns-Sayre Syndrome
Oocytes
Ovary
Phenotype
Polymerase Chain Reaction
Sequence Deletion

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