Kearns-Sayre综合征与线粒体DNA缺失的关系  

PARTIAL DELETION OF MITOCHONDRIAL DNA IN KEARNS SAYRE SYNDROME

作　　者：王文勇[1] 张金环[1] 张俊武 

机构地区：[1]承德医学院生化教研室 [2]承德医学院附属医院妇产科 [3]中国医学科学院基础医学研究所

出　　处：《承德医学院学报》1999年第2期93-95,共3页Journal of Chengde Medical University

摘　　要：目的：研究ＫＳＳ与线粒体ＤＮＡ缺失之间的关系。方法：提取患者骨骼肌标本中的总体ＤＮＡ，用ＰｖｕⅡ酶解后进行琼脂糖电泳分离，Ｓｏｕｔｈｅｒｎ转移后用经放射性标记的线粒体ＤＮＡ（ｍｔＤＮＡ）作探针进行杂交和放射自显影。结果：两例ＫＳＳ患者的骨骼肌标本中均发现有ｍｔＤＮＡ缺失的存在；缺失的长度分别为２．５Ｋｂ和３．５Ｋｂ；突变型ｍｔＤＮＡ在总体ｍｔＤＮＡ中所占的比例分别为８４．６％和６０．５％。结论：ｍｔＤＮＡ的缺失突变与ＫＳＳ的发病有关。Objective:To characterize the deletions of mitochondrial DNA in two Chinese patients with Kearns Sayre syndrome(KSS) and identify deletions of mtDNA as the etiology of this disease.Methods:Total DNA was isolated from frozen muscle and was digested with Pvu Ⅱ.The zymolytic products were separated by agarose gel electrophoresis,then transterred to nitrocellulose membrane and hybridized with P 32 labelled mtDNA.Results:A large scale deletion of mtDNA were identified in two patients with KSS.The lenth of deletion of mtDNA was 3.5kb in Case 1 and 2.5kb in Case 2.Mutated mtDNA accounted for 84.6% and 60.5% of total mtDNA in Case 1 and Case 2 respectively.Conclusion:The deletions of mtDNA are important cause of physical defect in KSS.

关 键 词：线粒体 DNA缺失 突变 K-S综合征 

分 类 号：R746.02[医药卫生—神经病学与精神病学]