Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS  

10例MELAS综合征患者线粒体DNA A3243G点突变的检测(英文)

作　　者：王朝霞[1] 刘淑萍[1] 杨艳玲[2] 袁云[1] 吴丽娟[1] 戚豫[2] 陈清棠[1] 

机构地区：[1]北京大学第一医院神经内科,北京10003 [2]北京大学第一医院儿科,北京100034

出　　处：《Chinese Medical Journal》2002年第7期995-997,共3页中华医学杂志（英文版）

摘　　要：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目的　对 10例MELAS型线粒体脑肌病患者进行线粒体DNAA32 4 3G点突变的检测。方法;;用PCR限制性内切酶分析法(restrictionanalysis);;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108%-478%;;在肌肉(5例)中为394%-677%。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mtDNAA3243G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;;mtDNAA3243G点突变为新生突变的居多。

关 键 词：mitochondrial encephalomyopathy lactic acidosis and stroke  like episodes (MELAS)   · mitochondrial   disease  ·   point mutation 

分 类 号：R741.04[医药卫生—神经病学与精神病学]