目的　对全面癫伴高热惊厥附加症 (GEFS+ )家系进行基因定位 ,并对候选基因进行测序研究。方法　用连锁分析的方法对GEFS+ 家系进行研究 ;设计GABRA6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GABRA6PCR测序。 结果　在 5 q34区域最大LOD值 3.815。GABRA6基因测序显示外显子 8有一C/G多态性。结论　GEFS+ 症致病基因在 5 q34区域取得了肯定的连锁关系。在该研究的两家系未发现GABRA6基因突变 ;所显示的单个碱基多态性对其他癫家系的连锁分析及其他癫综合征分子遗传学机制的研究均有意义 Objective To investigate the gene mapping of a family of generalized epilepsy accompanied by episodes of febrile seizures (GEFS +) and to study the sequencing of candidate genes. Methods The GEFS + pedigrees were studied by linkage analysis. All 9 intronic primers were designed at the junction of GABRA6 exon and the GABRA6 PCR was performed by Sanger dideoxy chain termination method. The maximum LOD value in the region of 5 q34 was 3.815. GABRA6 gene sequencing revealed a C / G polymorphism in exon 8. Conclusion The GEFS + disease-causing genes have a positive linkage in the 5 q34 region. No mutations in the GABRA6 gene were found in the two families in this study; the single base polymorphisms shown were of significance for the linkage analysis of other epileptic pedigrees and other molecular genetic mechanisms of epilepsy syndrome