中文摘要：

目的对全面性癫痢伴热性惊厥附加症（GEFS^＋）候选基因GABRB2进行测序研究。方法设计GABRB2外显子-内含子交界处内含子引物．采用PCR直接测序法，对一GEFS^＋家系GABRB2编码区全部11个外显子进行测序分析。结果患儿GABRB2基因外显子2，mRNA第133个碱基发现一新的C／G多态性。结论该家系未发现GABRB2基因编码区的突变；所显示的mRNA的单个碱基多态性对以后其他癫痢家系的连锁分析及GABRB2 mRNA、基因功能研究均有重要意义。

英文摘要：

Objective Sequencing analysis of candidate gene GABRB2 in generalized epilepsy with febrile seizure plus （GEFS^＋）. Method I ntron primers were designed around the splicing sites of 11 exons and PCR - direct sequencing method was performed in all 11 exons of GABRB2 gene. Result A novel C/G polymorphism in exon 2 （mRNA G133 C） had been detected in patients. Conclusion The new single nucleotide polymorphism （ SNP ） from GABRB2 exon 2 is useful for SNP linkage mapping in other familial epileptic syndrome and mRNA functional analysis of GABRB2 gene in the future.