中国特发性癫痫患者CLCN2基因第18号外显子SNP检测

Single nucleotide polymorphism detection of exon 18 of CLCN2 gene in idiopathic epilepsy in China

选取中国196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技术检测电压门控氯通道CLCN2基因第18号外显子的单核苷酸多态性(SNP),PCR产物测序结果显示该人群CLCN2基因第18号外显子基因型只有一种纯合型,未发现SNP位点.结论:对于中国人群,CLCN2基因第18号外显子与特发性癫痫关系不是十分密切.再结合E.Stogmann对CLCN2基因多态与癫痫关系研究的结果,初步推断CLCN2基因第18号外显子多态与特发性癫痫无显著相关性.这对特发性癫痫分子机制得研究有一定帮助.

PCR-SSCP is applied to detect single nucleotide polymorphism ( SNP) of exon 18 of the voltage-gated chloride channel 2 gene (CLCN2), using a case-control study with 195 idiopathic epilepsies (IE) patients and 162 age-matched normal people. The sequencing results indicate there is no SNP but one homozygotes genotype of exon 18 of CLCN2 gene. As to people in China, C2003G SNP is not distinctively associated with IE and is low polymorphisms. As to people in China, Exon 18 of CLCN2 gene are not closely related to IE. Combined with the result of E. Stogmann’s research on the relationship between CLCN2 gene polymorphism and IE. It is predicated that polymorphism on exon 18 of CLCN2 gene is not distinctively associated with IE and is low polymorphisms. This conclusion contributes to research in molecular mechanism of idiopathic epilepsy.