心肌病中新的线粒体DNA点突变  

A New Point Mutation of Mitochondrial DNA in Cardiomyopathy

作　　者：李殿富[1] 黄峻[1] 张丽容[2] 张丽珊[2] 

机构地区：[1]南京医科大学第一附属医院心内科,江苏南京210029 [2]东南大学附属中大医院心内科,江苏南京210009

出　　处：《南京医科大学学报（自然科学版）》2002年第4期293-295,共3页Journal of Nanjing Medical University(Natural Sciences)

摘　　要：目的:研究线粒体DNA(mtDNA)突变在心肌病发生发展中的可能作用。方法:应用聚合酶链反应(PCR)扩增11例扩张型心肌病(DCM)及肥厚型心肌病(HCM)患者活检骨骼肌标本,对PCR产物进行单链构型多态性分析(singlestrandedcon-formationpolymorphism,SSCP),与冠心病患者尸检心肌及正常人骨骼肌及心肌比较。结果:发现1例DCM患者骨骼肌中存在mtDNA点突变。结论:与心肌病相关的该区域点突变是该心肌病患者的可能病因。Objective:To study the possible relationship between mtDNA mutation and cardiomyopathy. Methods:mtDNA from bioptic samples of skeletal muscle of eleven patients with hypertrophic or dialated cardiomyopathy was amplified by polymerase chain reaction(PCR). The amplified mtDNA of skeletal muscle was analyzed by the method of single stranded conformation polymorphism(sscp), and compared with that of myocardium of patients with coronary heart disease, and that of skeletal muscle and myocardium of normal human. Results:A new point mutation of mtDNA was identified in one patient with dialated cardiomyopathy. Conclution:This new point mutation of mtDNA might be the pathogenicity of this cardiomyopathy patient.

关 键 词：心肌病 线粒体 脱氧核糖核酸 

分 类 号：R542.2[医药卫生—心血管疾病] Q754[医药卫生—内科学]