Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
作者： Hannah R. Elliott , David C. Samuels , James A. Eden , Caroline L. Relton , Patrick F. Chinnery
DOI: 10.1016/J.AJHG.2008.07.004
关键词:
摘要: Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined frequency ten mitochondrial point 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood to estimate de novo mutation rate. mtDNA were detected 15 offspring (0.54%, 95% CI = 0.30-0.89%). Of these 0.00107% (95% 0.00087-0.0127) harbored mother's blood, providing an The most common was m.3243A-->G. m.14484T-->C only found on sub-branches haplogroup J. In conclusion, at least one 200 healthy humans harbors pathogenic that potentially causes disease female carriers. exclusive detection J implicates background haplotype mutagenesis. These findings emphasize importance developing new approaches prevent transmission.
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