中国散发Brugada综合征患者SCN5A基因突变位点的检测

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.

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

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.