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学科主题临床医学
Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies
Cao, Yanyan1; Ma, Yinan1; Zhang, Ying1; Li, Yujie1; Fang, Fang2; Wang, Songtao1; Bu, Dingfang1; Xu, Yufeng1; Pei, Pei1; Li, Lin1; Xiao, Yang1; Wu, Hairong1; Yang, Yanling3; Zou, Liping4; Qi, Yu1
关键词Mitochondrial encephalomyopathy Mitochondrial DNA Mutation MELAS
刊名MITOCHONDRION
2010-06-01
DOI10.1016/j.mito.2010.01.008
10期:4页:330-334
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Cell Biology ; Genetics & Heredity
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Cell Biology ; Genetics & Heredity
关键词[WOS]RESPIRATORY-CHAIN DISORDERS ; DIAGNOSTIC-CRITERIA ; A3243G MUTATION ; PREVALENCE ; CHILDREN ; DNA ; DISEASE ; ADULTS ; MELAS ; EPIDEMIOLOGY
英文摘要

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.

语种英语
所属项目编号30700912
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000278262600004
Citation statistics
Cited Times:5[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64901
Collection北京大学第一临床医学院_中心实验室
作者单位1.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
2.Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
4.Gen Hosp Chinese Peoples Liberat Army, Dept Pediat, Beijing 100853, Peoples R China
Recommended Citation
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.
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),330-334.
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.
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