SCN9A基因多态与颞叶癫痫相关性

目的:探讨SCN9A基因多态与颞叶癫痫相关性。方法:搜集179例癫痫患者及正常对照组236例血样,提取全基因组DNA。聚合酶链反应-限制性片段长度多态(PCR-RFLP)、测序法检测四个标签SNPs多态性,比较两组各位点基因型和等位基因频率的差异。结果:SCN9A基因rs12620053和rs7588632位点多态在癫痫组与对照组间存在显著差异(P0.05),而rs2893013和rs4465779位点多态在癫痫组与对照组间无显著差异(P0.05)。结论:SCN9A基因rs12620053和rs7588632位点多态与癫痫易感性相关,而位点rs2893013和rs4465779与癫痫易感性无关。

Association of SCN9A Gene Polymorphismin Temporal Lobe Epilepsy

Objective:Explore the relationship between SCN9A gene polymorphism and temporal lobe epilepsy.Methods:Collected peripheral blood of 179 cases of epilepsy patients and 236 cases of normal control, and extracted genomic DNA by kits. Thegenotypes for SCN9A polymorphism were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) Analysis and sequencing. Eevaluated whether there are significantly differences between epilepsy group and control group.Results:The distribution of genotypes and allele frequencies of rs12620053 and rs7588632 loci of SCN9A gene between epilepsy groupand control group are significant differences (P <0.01), while differences of rs2893013 and rs4465779 loci of the SCN9A gene betweenepilepsy group and control group are not significant (P > 0.05).Conclusion:rs12620053 and rs7588632 polymorphism of SCN9A genewere associated with temporal lobe epilepsy.