心肌肌钙蛋白Ⅰ基因4 650G/C突变与肥厚型心肌病  

Hypertrophic Cardiomyopathy and a Mutation of 4 650G/C in Cardiac Troponin I Gene

作　　者：盛红专[1] 秦小同[1] 沈晨君[2] 郁艳梅[1] 吴晓晖[1] 朱健华[1] 

机构地区：[1]南通大学附属医院心内科,226001 [2]南通大学附属医院中医科

出　　处：《天津医药》2008年第8期581-583,共3页Tianjin Medical Journal

基　　金：南通市科技局资助项目(项目编号:S40047);江苏省卫生厅“135”工程重点学科开放课题(项目编号:WK0642)

摘　　要：目的:调查中国人群肥厚型心肌病(HCM)患者肌钙蛋白Ⅰ基因突变的发生情况,并分析基因型与临床表型之间的关系。方法:对65例HCM患者、60例正常对照者通过聚合酶链反应扩增心肌肌钙蛋白Ⅰ基因第7、8号外显子片段,以测序的方法寻找突变位点,并了解基因型明确的HCM患者的临床特点。临床资料包括症状、体格检查、心电图和心脏超声心动图。结果:在1例31岁女性患者的肌钙蛋白Ⅰ基因第7号外显子上发现了一个新的错义突变位点4650G/C(H130Q)。由于在60例正常对照组中未见异常,且该突变引起的氨基酸改变属于极性中性氨基酸置换为碱性氨基酸,故推测此突变位点为该患者的致病基因位点。结论:心肌肌钙蛋白Ⅰ发挥抑制心肌收缩的作用,推测心肌肌钙蛋白Ⅰ基因4650G/C(H130Q)的基因突变可导致肥厚型心肌病的发生。Objective： To study the disease-causing gene mutation of 4 650G/C in cardiac troponin in Chinese patients with hypertrophic cardiomyopathy （HCM）,and to analyze the correlation between the genotype and its phenotype. Methods： Sixty-five unrelated clinic patients with HCM and 60 normal controls were chosen for the study. The exon 7 and 8 of cardiac troponin I gene were amplified with PCR and the products were sequenced. The clinical data including symptom, physical examination,electrocardiography and echocardiography were collected. Results： A 4 650G/C mutation were identified,which caused a missense mutation （H130Q） in the exon 7 of the cardiac troponin I gene in a 31-year-old female patient with HCM and had not detected it in any of the 60 normal controls,which suggested the disease-causing mutation. The patient presented moderate hypertrophy of the intraventricular septum,and did not have a family history of sudden cardiac death. Conclusion： A novel missense mutation of cardiac troponin I has been identified. Mutation in troponin I, essential for it＇s inhibiting function, causes the disease of hypertrophic cardiomyopathy.

关 键 词：心肌病 肥厚性 肌钙蛋白Ⅰ 基因 突变 

分 类 号：R542.22[医药卫生—心血管疾病] R542.2[医药卫生—内科学]