中国散发Brugada综合征患者SCN5A基因突变位点的检测  

Detection of SCN5A gene mutations in sporadic Chinese patients with Brugada syndrome

作　　者：田莉[1] 柯琴梅[1] 张凌[1] 朱元洲[2] 祝建芳[1] 

机构地区：[1]华中科技大学附属协和医院,武汉430022 [2]武汉科技大学医学院重症监护室

出　　处：《山东医药》2013年第35期9-10,I0002,共3页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(31301024)

摘　　要：目的对5例中国散发Brugada综合征患者进行SCN5A基因突变位点检测。方法采用直接测序法对5例散发Brugada综合征患者进行SCN5A基因碱基突变位点的检测,测序结果用Chromas软件进行BLAST分析,再将测序峰与网上检索结果重新比对。结果 1例Brugada患者发现了一个同义杂合变异,即SCN5A基因第20外显子上发现一个碱基变异(C3549T),其所编码的第1 183位苏氨酸没有发生改变(T1183T)。结论在中国散发Brugada综合征患者的SCN5A基因上发现了1个新的碱基杂合同义突变。Objective To detect the mutations of SCN5A gene in 5 sporadic Chinese patients with Brugada syndrome. Methods Polymerase chain reaction and DNA sequencing were used to detect the base mutations of SCNSA gene in 5 spo- radic Chinese patients with Brugada syndrome. The resuhs of sequencing were conducted by BLAST analysis using Chro- mas, and then the sequencing peak was compared with online retrieval results. Results A synonymous heterozygous mu- tation was found in one Brugada patients, which was a base mutation （C3549T） in the twentieth exon of SCNSA gene, whose encoded threonine at the 1 183rd position did not change （T1183T）. Conclusion It is identified a new base heter- ozygous synonymous mutation （C3549T） in sporadic Chinese patients with Brugada syndrome.

关 键 词：BRUGADA综合征 SCN5A基因 基因突变 

分 类 号：R541[医药卫生—心血管疾病]