GSTPi三位点等位基因组合分布及难治性癫痫相关性.docVIP

GSTPi三位点等位基因组合分布及难治性癫痫相关性 　 作者：杨娟，黄祖春，张婧，王雪峰，席志琴，谢正祥 【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（single nucleotide polymorphisms，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Pi 3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(Plt;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(Plt;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(Plt;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. 【关键词】 单核苷酸多态性；癫痫；谷胱甘肽转移酶；组合分布 　　【Abstract】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 (Plt;0.0001). 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(Plt;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(Plt;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(Plt;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. 　　【Keywords】 single nucleotide polymorphisms; epilepsy; component genotype;