SCN1A基因4号外显子突变筛选  

Screening of gene mutation of SCN1A

作　　者：钟勇[1] 何进宇 谢怡[1] 伍学英 龚玉来 冯文 高利民 徐亚欧[1] 

机构地区：[1]西南民族大学生命与科学技术学院,四川成都610041 [2]成都三六三医院,四川成都610041

出　　处：《西南民族大学学报（自然科学版）》2009年第1期89-91,共3页Journal of Southwest Minzu University(Natural Science Edition)

基　　金：四川省应用基础资助项目"5HT2c受体在癫痫患者脑组织的表达"(2006J13-008-05)

摘　　要：目的:探讨癫痫人群及正常人群SCN1A基因突变情况.方法:共采集癫痫病人血液181份、癫痫病人脑组织38份,正常人血液120份.提取基因组DNA,针对SCN1A基因4号外显子设计1对引物,进行聚合酶链反应(PCR)扩增,琼脂糖凝胶电泳,选取适合条件的PCR产物进行聚丙烯酰胺凝胶电泳,进行单链构象多态性分析,对个别PCR产物进行双向测序.结果:所有样本进行SCN1A的4号外显子筛选时,均未发现异常带出现.选取2例癫痫病人血液的PCR产物测序结果与基因组序列相比对,也未发现碱基改变.结论:癫痫是一种复杂综合征,研究的339癫痫患者中未发现SCN1A基因4号外显子突变.Objective： To investigate gene mutations of SCN1A. Methods： 181 cases of epileptic＇s blood and 38 cases of epileptic＇s brain are collected, and 120 cases of peripheral blood in control group are also collected. Genome DNA is extracted and 1 pair of primers are designed. Destination gene are amplified by polymerase chain reaction（PCR）, and agrose gel electrophoresis is done to check the PCR products. PCR products are sequenced. Results： The 4th exons of SCNIA are screened by PCR- SSCP, no abnormal bands are found in all the subjects. No base alterations are found compared to the Gene Bank in the 2 epileptics. Conclusions： There are no gene mutations of SCN1A in all the subjects. Epilepsy is a complex disorder.

关 键 词：癫痫患者 SCN1A 基因 突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]