家族性肥厚型心肌病TNNI3基因突变研究  

Study of TNNI3 gene mutation in familial hypertrophic cardiomyopathy

作　　者：施鑫[1] 周炳元[1] 赵彩明[1] 林佳[1] 周遊[1] 杨俊华[1] 

机构地区：[1]苏州大学附属第一医院心脏病科,江苏省215006

出　　处：《江苏医药》2016年第1期41-43,共3页Jiangsu Medical Journal

基　　金：苏州市科技项目(SYS201328)

摘　　要：目的研究中国汉族人群家族性肥厚型心肌病(HCM)TNNI3基因突变。方法对家族性HCM家系的先证者13例及100例正常人群进行TNNI3基因筛查,PCR扩增其功能区的外显子片段,双脱氧末端终止法测序,对阳性结果患者进行家系调查。结果 1个家系中发现TNNI3基因c.470C>T突变,该突变使TNNI3基因第157位氨基酸由丙氨酸变为缬氨酸;而在正常对照组同一位置未见异常。该家系中1例HCM患者晚期呈扩张型心肌病样改变。结论携带TNNI3基因c.470C>T突变的HCM患者晚期有心肌变薄、心腔扩张的趋势。Objective To study TNNI3 gene mutation in Chinese Han population with familial hypertrophic cardiomyopathy （HCM） Methods Screening for TNNI3 gene was conducted in 13 probands with familial HCM and 100 healthy controls. The exons in the functional regions of TNNI3 gene were amplified with PCR and the products were sequenced with dideoxy chaintermination method. Results The c. 470C〉T mutation of TNNI3 gene was identified in one family, in which the 157th amino acid of TNNI3 gene was changed from alanine into valine. No similar mutation was identified in healthy controls. One HCM patient in the family of TNNI3 gene mutation above developed dilated cardiomyopathy-like change in advanced stage. Conclusion The HCM patients carrying c. 470C〉T mutation in TNNI3 gene has a trend of myocardial thinning and enlargement of cardiac chambers in advanced stage.

关 键 词：肥厚型心肌病 TNNI3基因 基因突变 

分 类 号：R542[医药卫生—心血管疾病]