中国特发性癫痫病患者CLCN2基因第17号外显子单核苷酸多态性检测与分析  

Single nucleotide polymorphisms detection and analysis of exon 17 of CLCN2 gene in idiopathic epilepsy in China.

作　　者：谢怡[1] 徐亚欧[1] 何进宇 龚玉来 高晋健 钟勇[1] 沈阅[1] 

机构地区：[1]西南民族大学,四川成都610041 [2]成都363医院神经内科,四川成都610041

出　　处：《四川医学》2009年第9期1354-1356,共3页Sichuan Medical Journal

基　　金：四川省应用基础项目(编号:2006J13-006-05)

摘　　要：目的检测中国特发性癲痫人群电压门控门控氯通道2基因CLCN2第17号外显子单核苷酸多态性(SNP)并分析其与特发性癫痫的关系。方法选取中国195例特发性癫痫患者为研究对象,以162位年龄匹配的非癫痫正常人群做对照,利用PCR-SSCP技术检测CLCN2基因第17号外显子SNP,并进行遗传平衡适合性检验和2χ独立性检验。结果17号外显子C2003G SNP(cDS序列)多态位点等位基因频率,基因型频率在病例组和对照组间分布的差异无统计学意义(2χ=0.15,P>0.05,2χ=0.47,P>0.05)。结论对于中国人群,C2003G,SNP与特发性癫痫(IE)的发生没有相关性,且该SNP位点表现低度多态。Objective To detect single nucleotide polymorphism（SNP）of exon 17of the voltage-gated chloride channel 2 gene（CLCN2）and study its relationship with idiopathic epilepsies（IE）in a population of IE patients of China.Methods PCR-SSCP was applied to detect SNP of exon 17of the voltage-gated chloride channel 2 gene（CLCN2）.using a case-control study with 195 IE patients and 162 age-matched normal people.The Hardy-Weinberg equilibrium test and independence test were analyzed.Results C2003G SNP were found.Counting as the standard of gene conding sequence（cDS）.The independence test showed that there was no significant difference of genotype distribution and allele frequency of C2003 SNP between the case and controls（P0.05）.Conclusion As to people in Cnina,C2003G SNP is not distinctively associated with 1E and is low polymorphisms.

关 键 词：特发性癫痫 电压门控氯通道 单核苷酸多态性 PCR-SSCP 单体型 

分 类 号：R742.1[医药卫生—神经病学与精神病学]