【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.更多还原

【Abstract】 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 SCN1A 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.更多还原