GST-Pi三位点等位基因组合分布与难治性癫痫的相关性  

Association between distribution of component genotype of three sites of GST-Pi and drug-resistant epilepsy

作　　者：杨娟[1] 黄祖春[1] 张婧[1] 王雪峰[1] 席志琴[1] 谢正祥[2] 

机构地区：[1]重庆医科大学附属第一医院神经内科,重庆400016 [2]重庆医科大学基础医学院生物医学工程研究室,重庆400016

出　　处：《第四军医大学学报》2008年第9期796-799,共4页Journal of the Fourth Military Medical University

基　　金：国家自然科学基金(30670536)

摘　　要：目的:探索谷胱苷肽S-转移酶Pi(GST-Pi)基因3个位点(Ile105Val,Ala114Val,Asp147Tyr)的单核苷酸多态性(singlenucleotidepolymorphisms,SNP)的基因组合分布与难治性癫痫的相关性.方法:采用等位基因特异性引物PCR技术对非难治性癫痫组、难治性癫痫组、正常组进行GST-Pi3个位点SNPs的检测.结果:正常组与癫痫组(包括难治性和非难治性两组)3个位点中单个位点的基因型构成在两组间差异均有统计学意义(P<0.0001).从组合基因来分析,两个位点均变异的癫痫组20例(21.74%)高于正常组10例(2.17%),差异有统计学意义(P<0.0001);3个位点均变异的癫痫组68例(78.91%)高于正常组3例(6.52%),非难治性癫痫组41例(83.67%)高于难治性癫痫组27例(62.79%),差异均有统计学意义(P<0.0001).结论:GST-Pi基因变异尤其是多个位点变异的人群易患癫痫,而多个位点变异的患者不易发展成难治性癫痫.AIM： To study single nucleotide polymorphisms （SNP） in the 3 sites （Ile105Val, Ala114Val, Asp147Tyr） of GST-Pi and the association between distribution of component genotype and drug-resistant epilepsy. METHODS： The SNPs of the three sites of GST-Pi for healthy people, drug-responsive epilepsy and drug-resistant epilepsy were genotyped by allele-specific primer-polymerase chain reaction （ASP-PCR） technique. RESULTS： Genotype distribution of every site among the 3 sites is different significantly between healthy group and epilepsy group （ P 〈0. O001 ）. A situation wss that 2 sites of 3 mutated, of which there were 20 （21. 74% ） people in epilepsy group and 10 （2.17%） people in control group, and the former was obviously higher than the latter（ P 〈 0.0001 ）. Another situation was that all of 3 sites mutated, of which there were 68 （78.91%） people in epilepsy group, 3 （6.52%） people in control group, and the former was obviously higher than the latter（ P 〈 0.0001 ）. The same as foregoing, 41 （ 83.67% ） people in drug-responsive epilepsy group and 27（62.79% ） people in drug-resistant epilepsy group, and the former was obviously higher than the latter（ P 〈 0.0001 ）. CONCLUSION： People with mutated gene are easy to get epilepsy, obviously the people with mutated gene of multitude sites, but these people are not easy to develop drug-resistant epilepsy.

关 键 词：单核苷酸多态性 癫痫 谷胱甘肽转移酶 组合分布 

分 类 号：R742.1[医药卫生—神经病学与精神病学]