右江医学2017，Vol.45Issue(2)：129-133,5.DOI:10.3969/j.issn.1003-1383.2017.02.001
基因SCN1A rs3812718多态性与桂西地区难治性癫痫相关性的研究
A study on correlation between polymorphism of gene SCN1A rs3812718 and human refractory epilepsy in western Guangxi
摘要
Abstract
Objective To study correlation between polymorphism of gene SCN1A rs3812718 and human refractory epilepsy(RE) in western Guangxi.Methods 109 cases of epilepsy with clear diagnosis and standardized treatment in western Guangxi were collected and divided into RE group (38 cases) and non RE group (71 cases) according to the diagnostic criteria of RE.Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry(MALDI-TOF-MS) was used to detect polymorphism of gene SCN1A rs3812718 in peripheral blood,and correlation between different genotypes and alleles with the risk of RE in the two groups was evaluated.Results AA,GA and GG genotypes in the RE group accounted for 5.3%,52.6%,and 42.1%,respectively,and that of the non RE group accounted for 9.9%,38.0% and 52.1%,respectively,difference was not statistically significant(P>0.05).Allele A and G frequency of rs3812718 in the RE group accounted for 31.6% and 68.4% respectively,and that of the non RE group accounted for 28.9% and 71.1% respectively,difference was not statistically significant(P>0.05).Difference of different gene models between the two groups was not statistically significant(P>0.05).Conclusion No relation between polymorphism of gene SCN1A rs3812718 and susceptibility to RE in western Guangxi is found.关键词
SCN1A基因/基因多态性/难治性癫痫/桂西地区Key words
gene SCN1A/genetic polymorphism/RE/western Guangxi分类
医药卫生引用本文复制引用
钱哲,陈海燕,黄清,黄灵,刘国军,唐雄林,黄建敏..基因SCN1A rs3812718多态性与桂西地区难治性癫痫相关性的研究[J].右江医学,2017,45(2):129-133,5.基金项目
广西自然科学基金(2014GXNSFAA118215) （2014GXNSFAA118215）
