一个汉族肥厚型心肌病家系中首次发现肌球连接蛋白-C基因Arg346fs突变  

A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy

作　　者：谢文丽[1] 刘文玲[2] 胡大一[2] 崔炜[1] 朱天刚[2] 李翠兰[2] 孙艺红[2] 李蕾[2] 边红[3] 

机构地区：[1]河北医科大学二院心内科,石家庄050000 [2]北京大学人民医院心内科 [3]首都医科大学同仁医院心脏中心

出　　处：《中华医学杂志》2005年第14期963-966,共4页National Medical Journal of China

基　　金：高校博士学科点专项基金资助项目(20011001063)

摘　　要：目的研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点,分析基因型与临床表型的相互关系。方法对5个经过MYH7基因扫描未发现异常的家族性HCM的先证者进行肌球连接蛋白C基因(MYBPC3)扫描,聚合酶链反应(PCR)扩增其功能区外显子片断,双脱氧末端终止法测序。对阳性结果者进行家系中其他成员筛查,并分析患者临床表型特点。结果在1个家系中发现MYBPC3基因的13号外显子的Arg346fs突变,而正常对照组同一位置未见异常,Arg346fs突变为我国患者中首次发现。结论MYBPC3基因为我国家族性HCM的的致病基因之一。其临床表型的异质性提示多因素参与了HCM的发生及外显。Objective To explore the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM). Methods The peripheral venous blood samples were collected from 5 HCM families without consanguinity, including 5 probands, 2 males and 3 females, 28 sporadic HCM patients, 18 males and 10 females, and 80 healthy controls. The exons in the functional regions of cardiac myosin-binding protein C (MYBPC3) were amplified with PCR and the amplified products were sequenced.Results A frame shift mutation-Arg346fs mutation in exon 13, the first mutation identified in Chinese-was discovered in one family with HCM. However, the members of the same HCM family with the Arg346fs mutation showed differences in phenotype and prognosis.Conclusion Cardiac myosin-binding protein C (MYBPC3) may be one of the main disease-causing genes. The heterogeneity of phenotype suggests that multiple factors may be involved in the pathogenesis.

关 键 词：连接蛋白 首次发现 C基因 聚合酶链反应(PCR) 病家系 家族性肥厚型心肌病 汉族 基因突变位点 临床表型 脱氧末端终止 MYBPC3 PC3基因 正常对照组 HCM 相互关系 基因扫描 MYH7 阳性结果 致病基因 外显子 基因型 先证者 未发现 

分 类 号：R542.2[医药卫生—心血管疾病]