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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 polymorphism site of serotonin 1A receptor (5-HTR1A) -1018A / G promoter and the susceptibility of epileptic patients. Methods Single nucleotide polymorphism (SSCP) and sequencing were used to detect SNP in peripheral blood of 193 cases of idiopathic epilepsy (IE) and 93 healthy controls . Results The polymorphism of 5-HTR1A gene promoter region-1018A / G was found for the first time. The frequencies of GG and AG genotypes were 176 cases in the case group, 17 cases in the control group, 87 cases in the normal control group and 6 cases in the control group In the case without AA homozygote genotypes, the G / A gene frequencies of the 5-HTR1A gene -1018A / G promoter region in the case group and the control group were 95.6% and 4.4%, respectively. The fitness test showed that the gene There was no significant difference in the type and gene frequency between the two groups. The samples were in Hardy-Weinberg equilibrium. There was no significant difference in genotypes and gene frequencies between case group and control group. Conclusion The results of this study showed no significant correlation between 5-HTR1A gene -1018A / G and epilepsy.