中国肥厚型心肌病与肌钙蛋白T基因的相关性研究  

Correlation of cardiac troponin T gene mutations to hypertrophic cardiomyopathy in Chinese patients

作　　者：李敏[1] 程宽[2] 王齐兵[2] 朱文青[2] 陈瑞珍[2] 葛均波[2] 陈灏珠[2] 

机构地区：[1]山东大学附属省立医院心内科,山东济南250021 [2]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：《南方医科大学学报》2011年第9期1589-1591,共3页Journal of Southern Medical University

基　　金：上海市卫生局立项资助课题(044075)

摘　　要：目的研究肌钙蛋白T(Troponin T,TNNT2)在中国肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者中的突变情况。方法对95例无血缘关系的HCM先证者(其中22例为家族性HCM先证者)进行肌钙蛋白T基因(TNNT2)突变筛查,利用聚合酶链反应(PCR)扩增其功能区8、9、10、11、14、15、16号外显子片段,双脱氧末端终止法测序。家系资料调查包括:临床表现、体格检查、心脏超声和心电图。结果 16例FHCM患者及79例SHCM患者均未发现TNNT2基因的错义突变、移码突变、剪接突变。仅在9号外显子检出一同义突变,为ATC→ATT,均编码异亮氨酸(Ile)。结论 TNNT2不是我国肥厚型心肌病的常见致病基因。Objective To study cardiac troponin T（TNNT2） gene mutations in Chinese patients with hypertrophic cardiomyopathy（HCM） and analyze the correlation between the genotype and phenotype.Methods Ninety-five unrelated Chinese patients with HCM and 120 control individuals were screened for TNNT2 gene mutations.Seven exons（8,9,10,11,14,15,and 16） in the functional regions of TNNT2 gene were amplified using PCR and the products were sequenced.The patients with positive results underwent further family screening.Results and Conclusion This study did not find any HCM-caused mutations in TNNT2 gene,a result different from the reported rates of TNNT2 gene mutation ranging from 10% to 20% in other nations,suggesting that TNNT2 gene is not a susceptible gene for HCM in Chinese population.

关 键 词：肥厚型心肌病 肌钙蛋白T 基因 突变 

分 类 号：R542.2[医药卫生—心血管疾病]