谷胱甘肽硫转移酶pi基因型在隐源性癫(癎)患者中的分布特征及其与脑电图的相关性

目的 探讨谷胱甘肽硫转移酶(GST)-pi基因3个位点(lle105Val、Ala114Val、Asp147Tyr)的单核苷酸多态性(SNP)与癫(癎)及难治性癫(癎)易息性的相关性.方法 采用等位基因特异性引物PCR技术检测GST-pi SNP,分析其在隐源性癫(癎)患者中的频率分布特征及其相关性.结果 在非难治性癫(癎)组中GST-pi基因变异的SNP在3个位点分布频率分别为59.62%、55.32%、50.94%,在难治性癫(癎)组中为58.33%、51.19%、45.92%.两组中GST-pi的3个位点变异基因型及变异等位基因分布频率均较健康对照组高(P<0.01).典型癫(癎)波脑电图组与不典型的异常脑电图组的基因型频率分布比较差异有统计学意义(F=0.0294、8.867×10-6、1.366×10-5,P<0.05).结论 GST-pi基因任一位点突变与癫(癎)易患性均具有相关性,且脑电图呈典型癫(癎)波,但与癫(癎)是否发展为难治性癫(癎)无关.

Distribution of GST-pi single nucleotide polymorphism in idiopathic epilepsy patients and its association with electroencephalogram

Objective To study the distribution patterns of the SNPs for the 3 sites (Ⅱe105Val, Ala114Val and Asp147Tyr) of glutathione S-transferase pi (GST-pi) in epilepsy patients without definite etiological factors. Methods At the same time, the possible relationship of GST-pi gene mutation with the vulnerability of drug-resistant epilepsy, drug-responsive epilepsy and EEG feature were explored. The SNPs of GST-pi for healthy people, drug-responsive epilepsy patients and drug-resistant epilepsy patients were genotyped by sequence-specific primers (SSP)-based PCR technologies (PCR-SSP). Results In drugresponsive epilepsy group, the frequency for 3 sites of mutated SNP of GST-pi was 59.62%, 55.32% and 50.94%, while it was 58.33%, 51.19% and 45.92% in drug-resistant epilepsy group. The difference of genotype and allele between normal group and foregoing epilepsy group was significant ( P<0.01 ), but no difference was found between drug-respensive epilepsy group and drug-resistant epilepsy group ( P>0.05 ). There was a difference of genotype distribution between groups with typical and untypical epilepsy EEG ( F = 0.0294, 8.867 × 10-6, 1.366 × 10-5, P<0.05 ). Conclusions The results indicate that the SNPs of GST-pi are associated with an increased risk of epilepsy, but not associated with an increased risk of drugresistant epilepsy. The patients present EEG characteristic of typical epilepsy.