目的对全身癫癎伴热性惊厥附加症(GEFS+)2个家系候选基因GABRG2进行测序研究。方法设计GABRG2外显子-内含子交界处全部9对内含子引物,采用Sanger双脱氧链终止法,对GABRG2PCR测序。结果2个家系未发现GABRG2基因突变,GABRG2基因测序显示外显子5的第13密码子有一C/T多态性。结论本研究结果所显示的单个碱基多态性对其他癫癎家系的连锁分析及其他癫癎综合征分子遗传机制的研究有重要意义。 Objective To investigate the sequencing of GABRG2 gene in two pedigrees of generalized epilepsy with febrile seizures (GEFS +). Methods All 9 pairs of intronic primers at the exon-intron junctions of GABRG2 were designed and the GABRG2 PCR was sequenced by Sanger dideoxy chain termination method. Results No GABRG2 gene mutation was found in the two families. The GABRG2 gene sequence showed a C / T polymorphism at codon 13 of exon 5. Conclusion The single base polymorphism revealed by this study is of great importance to the linkage analysis of other epileptic pedigrees and other molecular genetic mechanisms of epilepsy syndrome.