先天性长QT综合征一家系的突变分析  

Mutation analysis of a Chinese family with inherited long QT syndrome

作　　者：杜戎[1] 杨钧国[1] 李伟[1] 桂乐[1] 袁国会[1] 康彩练[1] 任法新[1] 张守焰[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院心血管病研究所,武汉430022

出　　处：《中华医学遗传学杂志》2005年第1期68-70,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30170377)~~

摘　　要：目的对1个先天性长QT综合征(longQTsyndrome,LQTS)家系的突变进行检测与分析。方法根据先证者的临床表现及心电图先对其致病基因初步判断,然后采用聚合酶链反应以及直接测序法对其进行KCNQ1基因检测以发现致病突变。结果根据先证者的临床表现及心电图将其致病基因初步定位于KCNQ1基因上,且在KCNQ1基因上发现一错义突变940(G→A)(G314S),此突变在欧美及日本人群中均有发现,为长QT综合征的突变热点。结论在中国长QT综合征患者中有与国外患者同样的突变热点。Objective To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS). Methods The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identfying mutation. Results A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the ‘hot spot’ of long QT syndrome mutation. Conclusion The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.

关 键 词：心电图 突变 先天性长QT综合征 KCNQ1基因 家系 先证者 致病基因 根据 目的 热点 

分 类 号：R541.1[医药卫生—心血管疾病]