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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。
Objective To investigate the mutation of SCN1B gene in pedigree of generalized epilepsy with febrile seizures. Methods A total of 6 GEFS + pedigrees were collected. Peripheral blood was collected from 40 healthy subjects and 50 healthy controls. Genomic DNA was extracted and 7 pairs of primers were designed and amplified by polymerase chain reaction (PCR) and agarose gel electrophoresis. Polymerase chain reaction (PCR) products were selected for polyacrylamide gel electrophoresis and single-stranded conformational polymorphism Individual PCR products were sequenced bidirectionally. Results Six probands and 50 healthy controls screened 5 exons of SCN1B, no abnormal bands were found. 6 probands PCR products sequencing results compared with the genome sequence, also found no base change. Conclusion Comprehensive epilepsy syndrome with febrile seizures is a complex syndrome, SCN1B gene mutation was not found in this family, GEFS + has genetic heterogeneity.