Brugada综合征一家系中2例患者的SCN5A基因突变及意义  

Mutation detection of SCN5A gene in two members of a Chinese family with Brugada syndrome

作　　者：田莉[1] 张凌[1] 祝建芳[1] 杜戎[1] 柯琴梅[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院,武汉430022

出　　处：《山东医药》2013年第41期11-12,15,共3页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(30800459/H0205)

摘　　要：目的观察Brugada综合征一家系中2例患者的SCN5A基因突变情况,并探讨其意义。方法选择Brugada综合征一家系2例患者,采用直接测序法对其SCN5A基因突变进行检测。结果该家系中发现1个纯合变异,即SCN5A基因第28外显子上的同义变异(C5457T),其所编码的1819位天冬氨酸密码子没有发生改变。结论该Brugada综合征家系2例患者的SCN5A基因上存在1个同义变异,但SCN5A基因不是患者的致病基因。Objective To observe the gene mutations of SCN5A gene in two members of a Chinese family with Brugada syndrome and to investigate the significance. Methods DNA sequencing was used to detect the SCN5A gene mutations in two members of a Chinese family with Brugada syndrome. Results One homozygous mutation was found in this family, namely SCNSA gene on twenty-eighth exon synonymous mutation （ C5457T）, and its encoding 1819th aspartic acid had not changed. Conclusion It is identified one synonymous mutation at SCN5A gene in two members of a Chinese family with Brugada syndrome, but the virulence gene of this family＇s is not SCNSA gene.

关 键 词：BRUGADA综合征 SCN5A基因 突变 

分 类 号：R541[医药卫生—心血管疾病]