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Frequency of rare haplotypes in trios with discordant paternal and maternal mitochondrial DNA.

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posted on 2015-05-14, 03:39 authored by Angela Pyle, Gavin Hudson, Ian J. Wilson, Jonathan Coxhead, Tania Smertenko, Mary Herbert, Mauro Santibanez-Koref, Patrick F. Chinnery

Two or three-allele mtDNA motifs define the discordant haplotypes also shown in Fig 1A. Raw reads from extreme high-depth mtDNA sequencing across all four motifs to detect paternal haplotypes. The number of possible paternal ‘reads’ in the children was the same as the mothers from the same trio, in keeping with background noise.

Frequency of rare haplotypes in trios with discordant paternal and maternal mitochondrial DNA.

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