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Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.


ABSTRACT: Heteroplasmy, the presence of two or more variants in an organism, may render mitochondrial DNA (mtDNA)-based individual identification challenging in forensic analysis. However, the variation of heteroplasmic proportions and the segregation of heteroplasmic variants through generations and within families have not been systematically described at a large scale in animals such as the domestic dog. Therefore, we performed the largest study to date in domestic dogs and screened a 582-bp-long fragment of the mtDNA control region in 180 individuals in 58 pedigrees for signs of heteroplasmy. We identified three pedigrees (5.17%) with heteroplasmic point mutations. To follow the segregation of the point mutations, we then analyzed 131 samples from these three independent pedigrees and found sign

SUBMITTER: Klutsch CF 

PROVIDER: S-EPMC3115052 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature