【摘要】 目的　检测Brugada综合征的致病基因突变位点。方法　对 1个Brugada综合征家系 11名成员和 2 0名正常人的DNA样本应用双脱氧链终止基因测序法进行心脏钠离子通道α亚单位(voltage gatedsodiumchanneltypeV ,SCN5A)基因测序。结果　SCN5A基因测序发现Brugada综合征家系第 2 2个外显子存在 1个杂合基因移码突变位点 ,经克隆传代后测序发现该突变为 4 0 87insC。该突变使通道蛋白 1314 1317位氨基酸发生改变并在 1318位终止 ,导致钠离子通道第 3结构域S4结构变化 ,S5 6及第 4结构域全部缺失。该突变在Brugada综合征家系中分布符合常染色体显性分布规律。对照组未发现相同突变。结论　SCN5A基因 4 0 87insC是国内首次发现的导致Brugada综合征的基因突变位点 ,也是国际上发现的第 2个引起Brugada综合征的SCN5A基因移码突变。更多还原

【Abstract】 Objective To detect the gene defect of Brugada syndrome Methods Gene sequencing method was performed in 11 members of one Brugada syndrome family and 20 normal subjects to screen SCN5A gene Results One mutation of Exon 22 4087insC was found in the Brugada syndrome family This mutation leaded to the change of amino acids from 1314 to 1317, and the loss of all amino acids from 1318, which causes the change of the structure of S4 in domain III, eliminates the S5 6 transmembrane segment of domain III, the total domain IV and the carboxy terminus of SCN5A. This disorder is inherited with an autosomal dominant mode of transmission No functional mutations were found in the control group Conclusion Gene SCN5A Exon 22 4087insC is the first mutation found in the Chinese population, and the second frameshift mutation found in the world in gene SCN5A responsible for Brugada syndrome.更多还原