5-羟色胺2C受体基因多态性与特发性癫痫关联研究  

Association between 5-HTR2C gene polymorphism and idiopathic epilepsy

作　　者：徐珑洋 伍雪英 林旭 何进宇 张林 王志敏 王英明[3] 徐亚欧[3] XU Longyang;WU Xueying;LIN Xu(Institute of Qinghai- Tibet Plateau, Chengdu 610041, China)

机构地区：[1]西南民族大学青藏高原研究院,四川成都610041 [2]成都三六三医院,四川成都610041 [3]西南民族大学生命科学与技术学院,四川成都610041

出　　处：《中风与神经疾病杂志》2018年第4期324-327,共4页Journal of Apoplexy and Nervous Diseases

基　　金：西南民族大学研究生创新型科研项目(No.CX2016SZ066)

摘　　要：目的研究5-羟色胺(5-hydroxytryptamin)2C受体基因多态性与特发性癫痫(epilepsy)的关联性。方法采用PCR-SSCP(polymerase chain reaction-single-strand conformation polymorphism)结合测序方法检测癫痫患者(病例组,n=220)与正常人(对照组n=200)5-HTR2C基因单核苷酸多态性(SNP),并利用统计学方法分析其多态性与特发性癫痫的相关性。结果 5-HTR2C基因在染色体rs113961355、rs114141491,没有发现单核苷酸多态性位点,rs113817908位发生A/C变异,其多态性位点的基因型频率差异显著(P<0.025),且分布不符合Hardy-Weinberg遗传平衡。结论 5-HTR2C基因rs113817908位点SNP多态性与特发性癫痫具有关联性。Objective To discuss the correlation between 5-HTR（ 5-hydroxytryptamin） 2C receptor gene polymorphism and epilepsy. Methods The PCR-SSCP（ polymerase chain reaction-single-strand conformation polymorphism） combined with sequencing method to detect epilepsy patients（ case group,n = 220） and normal persons（ control group,n =200） 5-HTR2C gene single nucleotide polymorphisms（ SNP） sites and use statistical methods to analyze its polymorphism and the correlation of idiopathic epilepsy. Results 5-HTR2C gene in chromosome rs113961355 and rs114141491,have had not found a single nucleotide polymorphism loci,rs113817908 an A/C mutation occursoccured,the polymorphism loci of genotype frequency was significantly difference different（ P〈0. 05）,and the distribution is was not in conformity with the Hardy-Weinberg genetic equilibrium. Conclusion The SNP polymorphism of 5-HTR gene rs113817908 is associated with idiopathic epilepsy.

关 键 词：特发性癫痫 PCR-SSCP 5-HTR2C SNP 

分 类 号：R742.1[医药卫生—神经病学与精神病学]