T445S:肥厚型心肌病的一个新的基因突变位点  

A Novel Missense Mutation,T445S,in the Cardiac Myosin Binding Protein-C Gene of Chinese Patient with Hypertrophic Cardiomyopathy

作　　者：颜默磊[1] 严静[1] 安丰双[2] 安贵鹏[2] 姜虹[2] 张运[2] 

机构地区：[1]浙江医院重症监护室,浙江杭州310013 [2]山东大学齐鲁医院,山东济南250012

出　　处：《心脑血管病防治》2008年第5期301-303,F0003,共4页CARDIO-CEREBROVASCULAR DISEASE PREVENTION AND TREATMENT

摘　　要：目的调查中国人群肥厚型心肌病(HCM)患者心肌肌球蛋白结合蛋白C(MyBPC3)基因突变的发生情况并对基因型与表现型之间的关系进行分析。方法对92例肥厚型心肌病患者及100名正常对照的聚合酶链反应(PCR)扩增产物进行单链构象多态性分析(SSCP)分析,于MyBPC3基因第14-15、17、25、27、33号外显子范围内寻找突变位点,并了解基因型明确的HCM患者的临床特点。结果在一例HCM患者的MyBPC3基因的第14-15号外显子上发现了一个新的突变位点T445S。由于在100名正常对照中未见该错义突变,故我们认为此突变位点为该患者的致病基因位点。结论心肌肌球蛋白结合蛋白C的C3结构域对于其连接及调节功能起着至关重要的作用,该区域的基因突变可导致肥厚型心肌病的发生。Objective To investigate the situation of cardiac myosin binding protein-C gene mutation in Chinese population of shandong province with hypertrophic eardiomyopathy（HCM） and to analyse the correlation between genotypes and phenotypes. Methods A venous blood sample was collected from 92 HCM patients aged 41 ± 15.58y and 100 healthy individuals （normal controls）. The genome DNA was extracted. Single strand conformation polymorphism （SSCP） analysis of the polymerase chain reaction-amplified products was conducted to search for mutations in the exon 14- 15, 17, 25, 27, and 33 of the MyBPC3 gene. Results clinical data were collected. Results By contrast with normal controls, we have found a missense mutation T445S for the first time in a HCM patient. Conclusions Missense mutation of the MyBPC3 gene may result in HCM.

关 键 词：肥厚型心肌病 心肌肌球蛋白结合蛋白C 基因 突变 

分 类 号：R542.2[医药卫生—心血管疾病]