中国一家系Brugada综合征相关基因SCN5A突变位点的检测

Gene(SCN5A)mutation analysis of a Chinese family with Brugada syndrome

目的研究一个中国家系 Brugada 综合征相关基因 SCN5A的突变情况。方法收集一个 Brugada 家系的临床资料,采用聚合酶链反应及直接测序法对该家系进行 SCN5A 基因突变检测,同时对136例家系外健康对照者的该位点进行单链构象多态性分析。结果在 Brugada 家系中发现了两个杂合变异,即 SCN5A 基因第二外显子上发现一个同义变异(A129G),没有导致氨基酸的改变(A29A);第26外显子发现一个错义变异(T4492A),导致代表酪氨酸的1494位密码子突变为天门冬酰胺(Y1494N)。结论在中国人 Brugada 综合征患者的 SCN5A 基因上发现了一个已经报道的同义多态位点(A29A)及一个新的错义突变位点(Y1494N)。

Objective To analyze the gene mutations on the cardiac sodium channel gene SCNSA in a Chinese family with Brugada syndrome. Method Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5 A gene. Result Two heterozygosis mutations, which include a missense mutation （Y1494N） and a samesense mutation （A29A）, were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls. Conclusion We detected a reported polymorphism site （A29A） and a novel missense mutation （Y1494N） on SCN5A in this Chinese family with Brugada syndrome.