全面性癫(癎)伴热性惊厥附加症6家系SCN1B基因突变筛查

目的探讨全面性癫伴热性惊厥附加症家系SCN1B基因突变情况。方法共收集GEFS 家系6个,采集40份外周血,并取健康对照组外周血50份。提取基因组DNA,设计7对引物,进行聚合酶链反应(PCR)扩增,琼脂糖凝胶电泳,选取符合条件的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6个先证者和50名健康对照进行SCN1B的5对外显子筛选时,均未发现异常带出现。6个先证者的PCR产物测序结果与基因组序列相比对,也未发现碱基改变。结论全面性癫伴热性惊厥附加症是一种复杂综合征,本组家系中未发现SCN1B基因突变,GEFS 具有遗传异质性。

Screening of Gene Mutation of SCN1B in Generalized Epilepsy with Febrile Seizures Plus Family

Objective To investigate gene mutations of SCN1B in generalized epilepsy with febrile seizures plus families.Methods Six GEFS families were collected in which 40 cases of peripheral blood were collected,and 50 cases of peripheral blood in control group were also collected.Genome DNA was extracted and 7 pairs of primers were designed.Destination genes were amplified by polymerase chain reaction (PCR),and agrose gel electrophoresis was done to check the PCR products.PCR products were sequenced.Results Five exons of SCN1B were screened by PCR-SSCP,no abnormal bands were found in all the subjects.No base alterations were found compared to the Gene Bank in the 6 probands.Conclusions There were no gene mutations of SCN1B in the probands of 6 GEFS families.GEFS is a complex disorder with genetic heterogeneity.