肥厚型心肌病患者肌钙蛋白T基因突变的研究  

Cardiac troponin T gene mutation in patients with hypertrophic cardiomyopathy

作　　者：韩智红[1] 宋月洁[1] 姜腾勇[1] 汪烨[1] 任学军[1] 吴学思[1] 

机构地区：[1]首都医科大学附属北京安贞医院心内科,北京100029

出　　处：《中华实用诊断与治疗杂志》2014年第1期27-29,共3页Journal of Chinese Practical Diagnosis and Therapy

摘　　要：目的研究肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者肌钙蛋白T基因(TNNT2)基因突变的发生情况。方法对无血缘关系的102例HCM患者进行TNNT2基因突变筛查,其中家族性HCM患者与非家族性HCM患者各51例。结果家族性HCM患者发现TNNT2基因突变3例,其中1例14号外显子检出错义突变(编码区712位G-C),GAA→CAA,编码谷氨酸变为谷氨酰胺;2例9号外显子检出同义突变(编码区348位C-T),为ATC→ATT,均编码异亮氨酸;非家族性HCM患者未发现TNNT2基因突变。结论 HCM患者TNNT2基因突变率较低。Objective To study the incidence of cardiac troponin T gene （TNNT2） mutation in patients with hypertrophic cardiomyopathy （HCM）. Methods A total of 102 unrelated HCM patients were involved and carried out cardiac troponin T gene （TNNT2） mutation screening, including 51 patients with familial HCM patients and 51 patients with non-familial HCM patients. Results In 51 patients with familial HCM, TNNT2 gene mutation was found in 3 patients, in which 1 patient was detected missense mutation in exon 14 （coding region was 712 G-C）, GAA→CAA, encoding amino acid glutamate to glutamine, and 2 patients were detected synonymous mutation in exon 9 （coding region of 348 C-T）, ATC→ ATT, encoding isoleucine. No gene mutation was found in non-familial HCM patients. Conclusions TNNT2 gene mutation rate is lower in HCM patients.

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]