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学科主题临床医学
Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies
Yu, Qi; Zhang, Ying; Wang, Zhaoxia; Yang, Yanling; Yuan, Yun; Niu, Shulan; Pei, Pei; Wang, Songtao; Ma, Yinan; Bu, Dingfang; Zou, Liping; Fang, Fang; Xiao, Jing; Sun, Fang; Zhang, Yao; Wu, Ye; Wang, Shuang; Xiong, Hui; Wu, Xiru
关键词mitochondrial encephalomyopathy MELAS MERRF Leigh&prime s syndrome mitochondrial DNA (mtDNA) mutation
刊名MITOCHONDRION
2007-02-01
DOI10.1016/j.mito.2006.11.019
7期:1-2页:147-150
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Cell Biology ; Genetics & Heredity
研究领域[WOS]Cell Biology ; Genetics & Heredity
关键词[WOS]STROKE-LIKE EPISODES ; LACTIC-ACIDOSIS ; MTDNA MUTATION ; DNA ; MELAS ; DISEASE ; GENE ; ENCEPHALOPATHY ; MYOPATHY ; DEAFNESS
英文摘要

To investigate the spectrum of common mitochondrial mutations in Northern China during the years of 2000-2005, 552 patients of mitochondrial encephalomyopathies clinically diagnosed as MELAS, MERRF or Leigh′s syndrome, 14 cases of LHON and 46 cases of aminoglycoside induced deafness along with their family members, accepted routine point mutation tests at nucleotide positions 3243, 8344, 8993, 11778 or 1555 in mitochondrial genome. PCR-RFLP analysis, site-specific PCR and PCR-sequencing methods were used to identify the mutations. Fifty-seven cases with A3243G mutation, 4 cases with A8344G, 2 cases with T8993C and 1 case with T8993G were identified from the 552 encephalomyopathy patients. In addition, one case with G11778A was found from the 14 cases of LHON, and 5 cases with A1555G from the 46 cases of aminoglycoside ototoxicity patients. Additional screening for T8356G and T3271C merely had limited significance for the diagnosis of MERRF and MELAS. Differential diagnosis among mitochondrial encephalomyopathies was often complicated due to many similar clinical manifestations. For A3243G mutation, the proportion of mutant mtDNA was not related to severity of the disease but to the age of onset. (c) 2006 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

语种英语
WOS记录号WOS:000245701400022
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被引频次:13[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61937
专题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, Cent Lab, Beijing, Peoples R China
2.Peking Univ, Hosp 1, Dept Neurol, Beijing, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
4.Beijing Childrens Hosp, Dept Neurol, Beijing, Peoples R China
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GB/T 7714
Yu, Qi,Zhang, Ying,Wang, Zhaoxia,et al. Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies[J]. MITOCHONDRION,2007,7(1-2):147-150.
APA Yu, Qi.,Zhang, Ying.,Wang, Zhaoxia.,Yang, Yanling.,Yuan, Yun.,...&Wu, Xiru.(2007).Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.MITOCHONDRION,7(1-2),147-150.
MLA Yu, Qi,et al."Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies".MITOCHONDRION 7.1-2(2007):147-150.
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