Kir4.1和AQP4基因多态性与颞叶癫痫遗传易感性的关系  

Relationship between polymorphism of Kir4.1 and AQP4and temporal lobe epilepsy in a Chinese Han Population

作　　者：牛凤鹤[1] 林华[2] 李景云[1] 朱席琳[1] 伍晓盼[1] 刘英[1] 

机构地区：[1]中国医学科学院基础医学研究所北京协和医学院基础学院医学分子生物学国家重点实验室,北京100005 [2]首都医科大学宣武医院神经内科,北京100053

出　　处：《基础医学与临床》2013年第6期752-756,共5页Basic and Clinical Medicine

摘　　要：目的探讨在星形胶质细胞中高表达的两个基因Kir4.1和AQP4多态性与颞叶癫痫遗传易感性的关系。方法采用病例-对照研究策略,以中国汉族人群438例颞叶癫痫患者和695例非癫痫受试者为研究对象,应用Taq-Man法检测Kir4.1和AQP4基因的多态性。结果共选择Kir4.1基因上的5个SNP位点以及AQP4基因上的7个SNP位点,在病例组和对照组的基因型分布均符合Hardy-Weinberg平衡,这些多态性位点与颞叶癫痫之间并无相关性,基因单倍型与疾病的关联无显著性的差异,结合临床表型进行分层分析,亦未有显著差异。结论在中国汉族人群中,Kir4.1和AQP4基因多态性在颞叶癫痫的发生和发展过程中无重要作用。Objective To investigate the relationship between the genetic polymorphisms of Kir4. 1 and AQP4 and the susceptibility to temporal lobe epilepsy （TLE）. Methods RT-PCR based on TaqMan-BHQ probes was used to identify the SNPs in the two genes in 438 TLE patients and 695 matched controls from Chinese Han origins. Results Five SNPs in Kir4. I and seven SNPs in AQP4 were selected. There was no statistically significant difference be tween TLE and control groups. Haplotype analysis was also performed and no significant difference was found. Whether the single SNP was associated with TLE phenotypes including hippocampus sclerosis and febrile seizure was also investigated, but no significant association was detected. Conclusions Polymorphisms of Kir4. 1 and AQP4 have no important effect on TLE occurrence and development

关 键 词：颞叶癫痫 Kir4 l AQP4 单核苷酸多态性 

分 类 号：R742.1[医药卫生—神经病学与精神病学]