5-羟色胺1A受体基因-1018A/G多态性位点与癫痫的关联研究

The study of epilepsy and-1018A/G site of 5-HTR1A.

目的探讨5-羟色胺1A受体(5-HTR1A)基因-1018A/G启动子区域多态性位点与癫痫患者易感性的关系。方法采用单链构象多态性(single-strand conformation polymorphism,SSCP)和测序技术对病例组193例特发性癫痫(idiopathic epilepsy,IE)患者及对照组93例健康体检人群外周静脉血进行SNP检测。结果 5-HTR1A基因启动子区-1018A/G多态为第一次发现;多态位点GG、AG型频率在病例组分别为176例、17例,在正常对照组分别为87例和6例,无AA纯合子基因型出现,病例组与对照组5-HTR1A基因-1018A/G启动子区多态性位点G/A基因频率分别为95.6%和4.4%,经适合性检验表明基因型及基因频率与理论分布比较差异均无统计学意义,所取样本处于Hardy-Weinberg平衡状态;病例组与对照组间经独立性检验基因型及基因频率差异无统计学意义。结论本研究结果表明5-HTR1A基因-1018A/G与癫痫发生无显著相关性。

Objective To investigate the relationship between the 5-HTR1A gene-1018A/G polymorphism in the promoter region and patients with epilepsy.Methods Using single-strand conformation polymorphism（SSCP） and sequencing technology detect the SNP of 193 cases of idiopathic epilepsy（idiopathic epilepsy,IE） patients and control group,93 cases of population health examination from blood.Results 5-HTR1A gene promoter-1018A / G polymorphism was found for the first time;Polymorphic loci GG and AG-type frequencies in test group respectively were 176 cases,17 cases,in the normal control group respectively were 87 cases and 6 cases of,non-AA homozygous genotype appeared.With a case group and control group 5-HTR1A gene-1018A/G polymorphism in the promoter region of locus G/A allele frequencies respectively were 95.6% and 4.4%,genotype frequencies of this site were in Hardy-Weinberg equilibri-um in patients and controls;No significant differences were seen in allele or genotype frequencies of 5-HTR1Agene-1018A/G between test and control groups.Conclusion The results show that 5-HTR1A gene-1018A/G were not significantly associated with epilepsy.