中国扩张型心肌病与β-肌球蛋白重链基因的相关性研究  

Correlation between MYH-7 Gene and Dilated Cardiomyopathy in Chinese Patients

作　　者：程宽[1] 王齐兵[1] 秦胜梅[1] 李敏[1] 李高平[1] 陈瑞珍[1] 杨英珍[1] 葛均波[1] 陈灏珠[1] 

机构地区：[1]复旦大学附属中山医院心内科上海市心血管病研究所,上海200032

出　　处：《中国临床医学》2007年第2期137-138,共2页Chinese Journal of Clinical Medicine

摘　　要：目的:研究β-肌球蛋白重链基因(MYH-7)在中国扩张型心肌病(DCM)患者中的突变情况。方法:对81例DCM患者(其中8例为家族性DCM先证者)进行MYH-7基因突变扫描,用聚合酶链反应分别扩增MYH-7基因功能区的15个外显子片断,双脱氧末端终止法测序。结果:在所有DCM患者中未检出MYH-7的致病突变,仅在1例散发性DCM患者的7号外显子检出同义突变。结论:MYH-7可能不是中国DCM患者的主要致病候选基因。Objective：To investigate beta-myosin heavy chain gene（MYH-7） mutation in Chinese patients with dilated cardiomyopathy（DCM）. Methods：Eighty-one patients with DCM including 8 index patients of familial DCM（FDCM） were enrolled in this study. Fifteen exons in the functional regions of the MYH-7 were amplified with polymerase chain reactions（PCR） and the PCR products were sequenced. Results： No disease-causing mutation in MYH-7 gene was found in all the patients with DCM except for one same-sense mutation in a sporadic case. Conclusion： MYH-7 gene may not be one of the main disease-causing genes in Chinese patients with DCM.

关 键 词：扩张型心肌病 家族性扩张型心肌病 肌球蛋白重链 基因 突变 

分 类 号：R542.2[医药卫生—心血管疾病]