Article
Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells.
Journal of medical genetics - 1 Nov 2010
Liou C-W, Lin T-K, Chen J-B, Tiao M-M, Weng S-W, Chen S-D, Chuang Y-C, Chuang J-H, Wang P-W
Abstract excerpt
BACKGROUND: A T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 16189 can generate a variable length polycytosine tract (poly-C). This tract variance has been associated with disease. A suggested pathogenesis is that it interferes with the replication process of mtDNA, which in turn decreases the mtDNA copy number and generates disease. METHODS: In this study, 837 healthy adults' blood samples...
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