To evaluate eight frequently encountered mitochondrial DNA (mtDNA) point mutations (A3243G, T8993G/C, A8344G, A1555G, G11778A, G3460A and T14484C) in Chinese, we recruited 1559 sporadic patients suspected of mitochondrial diseases and 206 family members. In suspected patients, 158 cases were detected with one of these eight mtDNA mutations (10.1%). A3243G was the most common mtDNA mutation both in suspected patients (9.4%) and in the relatives (34.2%). In addition, the ratios of A3243G (mutant/wild-type) and A8344G were significantly correlated with the patients' age of examination. Moreover, in 76 unrelated probands, the ratio of A3243G was correlated well with their seizures and myopathies. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [30700912]
通讯机构：[1]Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China;[5]Peking Univ, Hosp 1, Dept Cent Lab, 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
Cao Yanyan,Ma Yinan,Zhang Ying,et al.Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies[J].Mitochondrion.2010,10(4):330-334.doi:10.1016/j.mito.2010.01.008.
APA：
Cao, Yanyan,Ma, Yinan,Zhang, Ying,Li, Yujie,Fang, Fang...&Qi, Yu.(2010).Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies.Mitochondrion,10,(4)
MLA：
Cao, Yanyan,et al."Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies".Mitochondrion 10..4(2010):330-334
