北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科  > 期刊论文
学科主题: 神经病学
题名:
10例MELAS综合征中线粒体DNA A3243G点突变的检测
其他题名: Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS
作者: 王朝霞1; 刘淑萍1; 杨艳玲1; 袁云1; 吴丽娟1; 戚豫1; 陈清棠1
关键词: MELAS型线粒体脑肌病 ; 线粒体疾病 ; 点突变 ; mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS) ; mitochondrial disease ; point mutation
刊名: 中华医学杂志(英文版)
发表日期: 2002
DOI: 10.3760/j.issn:0366-6999.2002.07.008
卷: 115, 期:7, 页:995-997
文章类型: Journal Article
摘要: 目的对10例MELAS型线粒体脑肌病患者进行线粒体DNA A3243G点突变的检测。方法 用PCR-限制性内切酶分析法(restriction analysis),检测10例MELAS患者及其8名母系亲属的肌肉和/或外周血细胞中有无mtDNA的A3243G点突变,并进行突变型mtDNA的定量。结果 在10例患者的肌肉和/血细胞中,均检测到A3243点突变。突变型mtDNA的比例在血细胞(7例)中为10.8%-47.8%,在肌肉(5例)中为39.4%-67.7%。有2例患者同时进行了肌肉和血细胞标本的检测,突变型mtDNA的比例肌肉组织均高于血细胞。在血细胞中,年轻患者的突变型比例通常较高。在1个家系中可证实为母系遗传。但在3例先证者的母亲及2例先证者的同胞均未检测到此突变。 结论 10例MELAS综合征患者均携有mtDNA A3243G点突变。在6个家庭中,只有1个家庭可证实为母系遗传,另外5个家庭中此突变可能为散发性,提示在中国人MELAS的发病机制中,mtDNA A3243G点突变为新生突变的居多。 Objective To search for A3243G point mutations in mitochondrial DNA (mtDNA) from 10 cases of mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS).Methods Using PCR-restriction analysis, we investigated A3243G point mutations in mtDNA of muscle and/or blood cells from 10 patients and their 8 maternal relatives. We also quantitated the A3243G mtDNA in samples harboring the mutation.Results A3243G point mutations were identified in all muscle and/or blood samples from 10 MELAS patients. The proportion of mutant mtDNA was 10.8%-47.8% in blood (7 cases), and 39.4%-67.7% in muscle (5 cases). This ratio was invariably higher in muscle than in blood from two patients whose blood and muscle samples were both available. Younger patients usually carried higher proportions of A3243G mutant mtDNA in blood. Eight maternal relatives from 6 families were also examined. Maternal transmission of the disease could be identified in one family. No A3243G point mutations were found in mothers' blood from 3 families and siblings' blood from 2 families.Conclusions All 10 MELAS patients were found to have the mtDNA A3243G mutation in their muscle and/or blood. The A3243G mutation seems to be sporadic in 5 of the families examined, suggesting the mechanism of de novo mutation for the pathogenesis of their MELAS syndrome.
语种: 中文
原文出处: 查看原文
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/41260
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.北京大学第一医院神经内科,北京,100034
2.北京大学第一医院儿科,北京,100034
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[王朝霞]'s Articles
[刘淑萍]'s Articles
[杨艳玲]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[王朝霞]‘s Articles
[刘淑萍]‘s Articles
[杨艳玲]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace