目的:探讨钠离子通道β1亚单位基因3个位点(T185M,R85H,C121W)的单核苷酸多态性(SNP)与癫痫的相关性及其与脑电图的关系.方法:采用等位基因特异性引物PCR技术检测SCN1 B 3个位点的SNP分布频率,并用SAS统计软件对所得数据进行统计分析.结果:在难治性癫痫组中,SCNIB基因变异的SNP在3个位点中的分布频率分别为为51.4%,39.0%,32.2%;在非难治性癫痫组中分布频率分别为52.0%,34.6%,34.7%.两组中SCN1B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<0.05).典型癫痫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(P<0.05).结论:SCN1 B基因任一位点突变与癫痫易感性均具有相关性,且脑电图呈典型癫痫波,但与癫痫是否发展成为难治性癫痫无关.
Distribution of SCN1B single nucleotide polymorphism in idiopathic epilepsy patients and its association with electroencephalogram
AIM: To study the distribution patterns of the SNPs for the 3 sites(T185M, R85H and C121W) of SCN1B in epilepsy patients without definite etiological factors and the association between EEG and the distribution. METHODS: At the same time, the possible relationship of SCN1B gene mutation with the vulnerability of drug-resistant epilepsy, drug-responsive epilepsy and EEG feature were explored. The SNPs of SCN1B for healthy people, drug-responsive epilepsy patients and drug-resistant epilepsy patients were genotyped by sequence primers (SSP) -based PCR technologies(PCR-SSP). RESULTS: In drug-resistant epilepsy group the frequency for 3 sites of mutated SNP of SCN1B was 51.4%, 39.0%, 32.2% and it was 52.0%, 34.6%, 34.7% in drug-responsive epilepsy group. The difference of genotype and allele between normal group and foregoing epilepsy group was significant (P ＜ 0.05), but we found no difference between drug-responsive 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(T189M, χ2 = 5.9905, P ＜ 0.05; R85H, χ2 = 18.8424, P＜ 0.0001; Cl21W, χ2 = 25.0512, P ＜ 0.01). CONCLUSION: The results indicate that the SNPs of SCN1B are associated with an increased risk of epilepsy, but not associated with an increased risk of risk of drug-resistant epilepsy. The patient present EEG characteristic of typical epilepsy.
NETL
NSTL
万方数据
维普
