定位于1p36.12～1p35.1的良性家族性婴儿惊厥家系8个候选基因的排除克隆  

Cloning to Exclude 8 Candidate Genes Located in Chromosome 1p36.12～1p35.1 for BFIS

作　　者：宋延民 龙莉莉[2] 杨茜[2] 李海燕[2] 唐北沙[2] 

机构地区：[1]湖南省老年医院神经内科,湖南长沙410016 [2]中南大学湘雅医院神经内科,湖南长沙410008

出　　处：《现代生物医学进展》2012年第7期1233-1235,共3页Progress in Modern Biomedicine

基　　金：国家自然科学基金青年项目(30400261)

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。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.

关 键 词：良性家族性婴儿惊厥 候选基因 突变分析 基因克隆 

分 类 号：Q75[生物学—分子生物学] Q78