SCN5A基因多态性与早期复极改变关系的研究  

А cardiac sodium channel SCN5A subunit gene polymorphism and early repolarization variant

作　　者：田颖[1] 张萍[2] 高英[1] 李学斌[1] 王龙[1] 郭继鸿[1] 

机构地区：[1]北京市第六医院,100007 [2]北京大学人民医院,100044

出　　处：《临床心电学杂志》2010年第2期94-97,共4页Journal of Clinical Electrocardiology

摘　　要：目的探讨心脏钠离子通α亚单位(SCN5A)基因的遗传多态性与早期复极改变(ERV)的关系。方法采用PCR产物直接测序技术,对来自2009～2010年的84例研究对象进行SCN5A的2个单核苷酸多态位点(SNP)1673A>G,3666+69G>C的基因检测,其中ERV患者54例,健康对照组30例,分析比较其基因型及等位基因频率分布。结果在33例ERV患者中,1673A>G位点未发现明显基因突变,未再进一步检测;3666+69G>C位点ERV组与健康对照组比较基因型及等位基因频率分布差异有统计学意义(p<0.05);ERV组内,男女性别比较,晕厥与非晕厥组比较及J波抬高幅度>0.1mV与≤0.1mV的组间比较3666+69G>C基因型及等位基因频率分布差异无统计学意义(p>0.05)。结论3666+69G基因多态性(G→C)可能与ERV相关。Objective To investigate the effect of the polymorphism of cardiac sodium channel subunit α （SCN5A） gene on early repolarization variant （ERV）. Methods Using PCR direct sequencing technology, two single nucleotide polymorphisms （SNP） of SCN5A gene, 1673 AG and 3666 ＋69 G〉C 84, was analyzed by detecting genetic variation genotype and allele frequency distribution in 54 early repolarization variant and 30 healthy subjects. Results In the 1673 A 〉G locus, there is no significant difference in genetic mutation as well as allele frequency distribution between variant and healthy group. In 3666 ＋69 G〉C locus, both of genetic variation genotype and allele frequency distribution in variant group are significantly different from control group （p〈0.05）. In variant group, there is no statistical difference in sex, syncope and the J-wave elevation range（p〉0.05）. Conclusion 3666＋ 69G gene polymorphism （G→C） may be associated with early repolarization variant.

关 键 词：早期复极改变 基因多态性 1673A〉G 3666+69G〉C 

分 类 号：R541.7[医药卫生—心血管疾病]