中文摘要：

目的对全身性癫痫伴热性惊厥附加症（GEFS＋）2家系进行基因定位，并对侯选基因GABRA1进行测序分析。方法用连锁分析的方法对GEFS＋家系进行研究；设计GABRA1外显子一内含子交界处全部11对内含子引物，采用Sanger双脱氧链终止法，对GABRA1PCR测序。结果在5q34区域最大LOD值3．815。GABRA1基因测序显示外显子；有-T／C多态性。结论GEFS＋致病基因在5q34区域取得了肯定的连锁关系。在该研究的2家系未发现GABRA1基因的突变；所显示的单个碱基多态性对其他癫痫家系的连锁分析及其他癫痫综合征分子遗传学机制的研究均有意义。

英文摘要：

[Objective] Linkage mapping generalized epilepsy, with febrile seizures plus （GEFS＋） gene and candidate gene GABIRA1 sequencing analysis was studied. [Methods] Using mierosatellite markers from CHLC human linkage mapping screening set 8 to perform genome-wide linkage analysis and PCR direct sequencing candidate genes. [Results] The highest LOD score 3.815 achieved at 5q34 region from 2 GEFS＋ families. A TIC polymorphism in exon 4 of GABIRA1 gene was detected. [Conclusion] Linkage mapped a GEFS＋ locus to 5q34 in 2 Chinese families and reported a single nueleotide polymorphism （SNP） from candidate gene GABRA1 exon 4.