Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

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Figure 3.
Figure 3.

Frequency of the mutant allele (relative to the revised Cambridge Reference Sequence [rCRS]) and frequency change of the mutant allele for different mutation types. (A) Frequency of the mutant allele for: NS mutations in the mother [NS(M)]; SS and NC mutations in the mother [SS-NC(M)]; NS mutations in the offspring [NS(O)]; and SS and NC mutations in the offspring [SS-NC(O)]. (B) Distribution of the frequency change of NS and SS-NC mutations during transmission from mothers to offspring. The same results were obtained when the analyses were done for the minor allele at each position rather than the non-rCRS allele.

This Article

  1. Genome Res. 26: 417-426

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