肥厚型心肌病患者心肌mtDNA大片段缺失的探讨  

Analysis of mtDNA Deletion on Heart Muscles of Hypertrophic Cardiomyopathy Patients

作　　者：尹桂芝[1,2] 张丽容[1,2] 李殿富[1,2] 张丽珊[1,2] 

机构地区：[1]南京铁道医学院附属医院心内科 [2]南京铁道医学院生物教研室

出　　处：《遗传》1999年第1期16-18,共3页Hereditas（Beijing)

摘　　要：应用ＬｏｎｇＰＣＲ及ＰｒｉｍｅｒＳｈｉｆｔＬｏｎｇＰＣＲ技术对３例肥厚型心肌病（ＨＣＭ）患者和１０例正常引产胎儿的１３份心肌标本予以线粒体ＤＮＡ缺失检测，结果在１例ＨＣＭ患者心肌线粒体ＤＮＡ中发现约５０ｋｂ缺失，而在正常引产胎儿的标本未见该缺失。Using long PCR and primer shift long PCR techniques, weanalyzed the mitochondrial DNA (mtDNA) isolated from the heart muscles of 3 hypertrophic cardiomyopathy (HCM) patients and 10 normal abortive fetuses Almost 5 0kb deletion was found in the heart mtDNA of one HCM patient, while no deletion was detected in that of 10 fetuses It is concluded that HCM may correlate with mtDNA deletion

关 键 词：肥厚型心肌病 线粒体DNA 缺失 

分 类 号：R542.2[医药卫生—心血管疾病]