Association between distributions of component genotype of three sites of SCN1B gene and epilepsy / 中华神经科杂志

ABSTRACT

Objective To study the single nucleotide polymorphisms (SNP) in 3 sites allele (T189M, R85H, C121W) of SCN1B and the association between gene distribution and epilepsy. Methods All 330 blood samples of refractory (80 cases), non-refractory (100 cases) epilepsy patients and healthy people (150 cases) were collected. Genomic DNA of leucocyte was extracted. SNPs of three sites allele of SCN1B were tested by allele-specific primer-polymerase chain reaction (ASP-PCR).Data were analyzed by SAS 8.1 statistical software. Results Epilepsy group and healthy group had significantly statistical difference in composition of 3 sites allele on single site genotype (x~2=11.19, 11.14 and 6.50, all P < 0.05).There was no statistical significance between refractory and non-refractory epilepsy group. On gene combination, in 27 different combinations of polymorphism, mutation frequency in 3 sites (CT + AG + CG) was highest in epilepsy group (18.40%).The next was one site in CT + GG + CC (16.80%).In healthy group, frequency of non-variant in CC + GG + CC was highest (16.67%), and the next was 2 sites in CT+ AG+CC (13.73%).Thirty-five cases in epilepsy group (28.80%) had 3 sites mutation compared with 10 cases in healthy group (9.71%), and their difference had statistical significance (x~2=12.54, P<0.05).Eighteen cases in refractory epilepsy group (30.51%) had 3 sites mutation compared with 21 cases in non-refractory epilepsy group (28.77%), and the difference had no statistical significance. Fifty cases in epilepsy group (40.00%) had 2 sites mutation compared with 41 cases in healthy group (40.20%), and there was no statistical significance between them; 25 cases in refractory epilepsy group (42.37%) had 2 sites mutation compared with 21 cases in non-refractory epilepsy group (28.71%), and their difference had no statistical significance. Conclusions Mutation, especially multisite mutation of SCN1B is relatively likely to cause epilepsy in human. Gene distribution and combination of three sites allele of SCN1B in refractory epilepsy is close to that in non-refractory epilepsy.