先天性长QT综合征和Brugada综合征基因突变  

Relationship between Congenital Long QT Syndrome and Brugada Syndrome Gene Mutation

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

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

出　　处：《中国医学科学院学报》2005年第3期289-294,共6页Acta Academiae Medicinae Sinicae

基　　金：国家高技术研究发展计划项目(863项目)(2002BA711A07);国家自然科学基金(30170377)~~

摘　　要：目的研究先天性长QT综合征(LQTS,包括JLNS和RWS)和Brugada综合征(BS)家系的基因突变情况。方法采用聚合酶链反应(PCR)和直接测序法,对4个LQTS家系进行KCNQ1、KCNH2和KCNE1基因检测,对3个BS家系进行SCN5A基因检测。结果在1个LQTS家系中发现1个KCNQ1基因上错义突变940穴G→A雪穴G314S雪,在Jervell-Longe-Nielsen综合征(JLNS)家系的先证者及其姐姐KCNQ1基因的第15外显子发现单核苷酸多态性(SNPs)G643S,还发现1个突变:KCNQ1基因外显子2a的第227位核苷酸C被T代替,其编码的苏氨酸被异亮氨酸所代替。在1个BS家系中发现1个SCN5A基因上的突变N1774S。其余的LQTS家系及BS家系在以上已知基因中均未发现突变。结论发现和JLNS有关的1个SNPs和1个新突变,并发现1个与欧美人群相同的Romano-Ward综合征相关突变,在BS家系中发现1个新的错义突变,丰富了LQTS及BS离子通道突变的基因库资料。Objective To investigate the molecular pathology in families with long QT syndrome(LQTS)including Jervell-Longe-Nielsen syndrome(JLNS)and Romano-ward syndrome(RWS)and Brugada syndrome(BS)in Chinese population. Methods Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation. Results We identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms(SNPs)G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients. Conclusion New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.

关 键 词：长QT综合征 BRUGADA综合征 基因突变 KCNQl基因 SCN5A基因 Jervell.Longe.Nielsen综合征 Romano-ward综合征 

分 类 号：R541.7[医药卫生—心血管疾病] Q343.1[医药卫生—内科学]