家族性肥厚型心肌病心肌肌钙蛋白T2基因突变特点:14例分析  

Cardiac troponin T2 mutation in 14 cases with familial hypertrophic cardiomyopathy

作　　者：陶琴[1] 杨俊华[1] 郑冬冬[1] 董宁征 李红霞[1] 杨向军[1] 

机构地区：[1]苏州大学附属第一人民医院心内科,江苏省苏州市215006 [2]江苏省血液病学研究所,江苏省苏州市215006

出　　处：《中国组织工程研究与临床康复》2007年第52期10437-10439,10450,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

基　　金：江苏省"135"工程重点学科专项基金资助项目~~

摘　　要：目的:对14例家族性肥厚型心肌病患者第2～16号外显子进行扫描,试图发现在这一范围上有无基因突变位点。方法:选择2002-01/2006-12苏州大学附属第一人民医院心内科门诊及住院的肥厚型心肌病患者14例,年龄16～62岁。均符合WHO/ISFC1996年肥厚型心肌病诊断标准;汉族;无血缘关系;每例患者家族中至少两人发病;均对检测项目知情同意。对受试对象的聚合酶链反应扩增产物进行单链构象多态性分析,于肌钙蛋白T2基因第2～16外显子范围内寻找突变位点,并了解基因型明确的肥厚型心肌病患者的临床特点。之前,均已对该14例先证者的β-肌球蛋白重链基因3～26号外显子进行突变基因筛查,未见异常。结果:14例临床确诊的家族性肥厚型心肌病患者肌钙蛋白T2基因第2～16外显子,除10例患者106位密码子存在ATC-ATT多态性外,未发现基因位点的异常。结论:在中国汉族人群家族性肥厚型心肌病患者未发现肌钙蛋白T2基因突变类型。AIM： To determine the mutation characteristics in the exons 2-16 of cardiac troponin T gene （TNNT2） in 14 patients with hypertrophic cardiomyopathy （HCM）. METHODS： Specimens of peripheral blood were collected from 14 outpatients and hospitalized HCM patients in the Department of Cardiology, the First People＇s Hospital of Soochow University between January 2002 and December 2006. With the informed consents, the 14 unrelated Chinese patients aged 16-62 years were all in accordance with the diagnosis criteria of HCM by WHO/ISFC in 1996, and had at least two family cases of disease. Single-strand conformation polymorphismgel analysis of the polymerase chain reaction-amplified products was conducted to search for mutations in the exons 2-16 of TNNT2. Previously, the 14 unrelated Chinese pedigrees in beta myosin heavy chain gene were studied, but no mutation detected. RESULTS： In addition to an ATC-ATT polymorphism on codon 106 of 10 patients, there was no mutation detected in the exons 2-16 of TNNT2 in 14 familial HCM patients. CONCLUSION： No mutation has been found in the TNNT2 of Chinese patients with familial HCM.

关 键 词：心肌病 肥大型 肌钙蛋白T 基因突变 基因多态现象 

分 类 号：R394.112[医药卫生—医学遗传学]