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The study of mitochondrial A3243G mutation in different samples
Ma, Yinan1; Fang, Fang2; Yang, Yanling3; Zou, Liping4; Zhang, Ying1; Wang, Songtao1; Xu, Yufeng1; Pei, Pei1; Qi, Yu1
关键词A3243G MELAS Mitochondrion Mutation Urine
刊名MITOCHONDRION
2009-04-01
DOI10.1016/j.mito.2009.01.004
9期:2页:139-143
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]DNA ; DISEASE ; DIAGNOSIS ; PRESENTATIONS ; CELLS
英文摘要

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is the most frequent syndromic manifestation of A3243G mutation in mitochondrial DNA. Detection of A3243G mutation in blood is less helpful for the diagnosis of MELAS and the carriers, and the mutation ratio in blood correlates only in a limited extent with the severity of the disease. Here we compared the ratio of A3243G mutation in four easily available samples (blood, urine, hair follicle and saliva) in patients with MELAS carrying A3243G mutation as well as their maternal relatives from 32 families, to find out the samples appropriate for the detection of the patients and carriers and useful for the evaluation of clinical severity from their mutation ratio. In MELAS patients and the carriers with minor symptoms or normal phenotype, A3243G mutation ratio was significantly higher in urine than in blood. A close correlation between A3243G mutation ratio in blood and that in urine, hair follicles and saliva was found in the probands and their relatives. Clinical features closely correlated with the mutation ratio in urine. Measurement of A3243G mutation ratio in urine is a non-invasive, convenient and rapid method with its diagnostic meaning superior to blood testing. Crown Copyright (C) 2009 Published by Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000264861400008
项目编号30700912
资助机构National Natural Science Foundation of China ; Peking University First Hospital
引用统计
被引频次:25[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/400002259/63306
专题北京大学第一临床医学院_中心实验室
北京大学第一临床医学院_儿科
北京大学第一临床医学院_医学影像科
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
推荐引用方式
GB/T 7714
Ma, Yinan,Fang, Fang,Yang, Yanling,et al. The study of mitochondrial A3243G mutation in different samples[J]. MITOCHONDRION,2009,9(2):139-143.
APA Ma, Yinan.,Fang, Fang.,Yang, Yanling.,Zou, Liping.,Zhang, Ying.,...&Qi, Yu.(2009).The study of mitochondrial A3243G mutation in different samples.MITOCHONDRION,9(2),139-143.
MLA Ma, Yinan,et al."The study of mitochondrial A3243G mutation in different samples".MITOCHONDRION 9.2(2009):139-143.
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