γ-氨基丁酸受体基因多态性与特发性癫痫的相关性研究  

γ-amino butyric acid receptor subtype B (GABBR) genes and idiopathic generalized epilepsy

作　　者：孙学东[1] 宋振海[1] 迟兆富[2] 

机构地区：[1]山东省立医院 [2]山东大学齐鲁医院

出　　处：《山东医药》2007年第26期20-21,共2页Shandong Medical Journal

基　　金：山东省医药卫生科技发展青年基金项目(2005HZ047)

摘　　要：目的探讨GABA受体基因GABBR1多态性在特发性癫痫发病(IGE)中的作用。方法采用PCR、琼脂糖凝胶电泳技术分析46例IGE患者(研究组)rs3025627、rs3025628和rs29220基因型频率变化,并与50例健康查体者(对照组)比较。结果观察组与对照组rs3025627TT基因型频率分别为0.362、0.245,P<0.01,rs3025627AT基因型频率分别为0.354、0.447,P<0.05。两组rs3025628和rs29220基因型频率无统计学差异(P>0.05)。结论rs3025627基因型频率改变可能是导致GABBR1基因外显子7在IGE病中起作用的原因。[ Objective] To investigate the relationship between γ-aminobutyric acid （GABA） receptor subtype B （GABBR） genes and idiopathic generalized epilepsy（IGE）. [ Methods] 46 patients with IGE from Shandong Provincial Hospital and Affiliated Hospital of Shandong University, and 50 controls from Shandong Provincial Hospital enrolled. Three single nucleotide pelymorphisms （SNPs） rs3025627, rs3025628 and rs29220 were used as genetic markers. PCR and agarose gel electrophoresis were used to analyze the frequencies of SNPs. [ Results] The allele of Tr frequencies of rs3025627 was significantly higher in IGE patients than those in normal controls （0. 362 vs 0.245, P 〈 0. 01 ） and the AT type of rs3025627 was significantly higher in normal controls than those in IGE patients （0.447 vs 0.354 ,P〈0. 05）. The allele frequencies of rs3025628 and rs29220 had no statistical differences between the two groups. [ Conclusion ] The SNP rs3025627 is associated with IGE.

关 键 词：特发性癫痫 Γ-氨基丁酸 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]