肥厚型心肌病患者心肌线粒体DNA的大片段缺失  

Long Fragment Deletion in the Heart Mitochondrial DNA of a Patient with Hypertrophic Cardiomyopathy

作　　者：尹桂芝[1] 张丽容[1] 李殿富[1] 张林 

机构地区：[1]南京铁道医学院附属医院心内科

出　　处：《南京铁道医学院学报》1997年第4期268-270,共3页Journal of Nanjing Railway Medical College

摘　　要：目的：研究肥厚型心肌病与线粒体ＤＮＡ（ｍｔＤＮＡ）缺失的关系。方法：应用ＬｏｎｇＰＣＲ技术扩增１例肥厚型心肌病（ＨＣＭ）患者心肌标本和血细胞ｍｔＤＮＡ。结果：在心肌ｍｔＤＮＡ中发现至少５ｋｂ缺失，而血细胞中未见缺失。结论：这支持ｍｔＤＮＡ缺失是心肌病的一个重要病因，且具有组织差异性。bjective:To verify the relationship between the hypertrophic cardiomyopathy(HCM) and the mitochondrial DNA(mtDNA).Method:The long PCR technique was used to amplify the heart and leukocytes mtDNA of a HCM patient.Result:At least 5kb deletions was detected in the heart mtDNA,but no deletion was found in the leukocytes.Conclusion:HCM is mainly caused by mtDNA deletion which varies in different tissues.

关 键 词：肥厚型心肌病 心肌病 线粒体DNA 缺失 

分 类 号：R542.2[医药卫生—心血管疾病]