Article
Advantages and considerations in the confirmation of mitochondrial DNA mutations by denaturing HPLC and pyrosequencing.
Annals of the New York Academy of Sciences - 1 Jul 2010
Yen Hsiu-Chuan, Hsu Wei-Chien, Lin Chih-Lung, Chen Guang-Wu, Huang Yu-Hsiang
Abstract excerpt
Human mitochondrial DNA (mtDNA) encodes 13 polypeptides essential for oxidative phosphorylation. Because of the unique features of "replicative segregation" and "threshold expression" of mtDNA genetics, identification of homoplasmy versus heteroplasmy status is critical. Results from various detection methods may lead to different interpretations on formation or outcome of mtDNA mutations, such as the conclusion...
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