【摘要】 目的:克隆定位于1p36.12～1p35.1上微卫星标志D1S2864和D1S2830之间12.4cM的区间内的腓骨肌萎缩症2L型的致病基因。方法:应用生物信息学方法筛选8个候选基因(NHE1、SMN、STX12、OX1R、BDR2、DHHC18、FLJ10315和SESN2),设计合成扩增8个基因外显子及外显子与内含子交界的引物,DNA直接测序法进行序列变异分析。结果:未发现与BFIS共分离的致病突变,但发现3个已知的多态。结论:排除了8个候选基因为该BFIS致病基因的可能。更多还原

【Abstract】 Objective: To clone the disease-causing genes which was possibly existed in 12.4 cM distance between microsatellite markers D1S2864 and D1S2830 in chromosome 1p36.12～1p35.1 for benign familial infantile seizure(BFIS).Methods: 8 positional and functional candidate genes(NHE1,SMN,STX12,OX1R,BDR2,DHHC18,FLJ10315 and SESN2)were chosen among all known genes in this locus region by bioinformatics inqury.Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes.Results: There was no disease causative mutation,while 3 polymorphisms was identified.Conclusion: The candidate genes were excluded from disease gene for the BFIS family.更多还原