新的良性家族性婴儿惊厥位点候选基因的突变分析  

Mutation Analysis of Candidate Genes in Benign Familial Infantile Convulsions on a Novel Locus

作　　者：宋延民[1] 龙莉莉[2] 李海燕[2] 唐北沙[2] 邓景贵[1] 

机构地区：[1]湖南省马王堆医院神经内科,长沙410016 [2]中南大学湘雅医院神经内科,长沙410008

出　　处：《解放军医药杂志》2011年第3期21-23,F0003,共4页Medical & Pharmaceutical Journal of Chinese People’s Liberation Army

摘　　要：目的前期工作中我们将一中国良性家族性婴儿惊厥(BFIC)家系的致病基因定位于1p36.12～1p35.1上,为了进一步克隆该致病基因,对该定位区间内的候选基因进行突变分析。方法通过生物信息学查询,选择SLC9A1、STMN为候选基因,应用Primer 3引物设计、PCR扩增和直接测序的方法进行候选基因的突变检测;采用DNATAR软件进行序列分析。结果未发现与BFIC共分离的致病突变,但发现2个已知的多态。结论排除SLC9A1、STMN为该BFIC家系致病基因的可能。Objective The virulence gene of benign familial infantile convulsions（BFIC） to chromosome 1p36.12-1p35.1 was mapped in an early study.Candidate genes in the locus were analyzed for mutation to further clone the virulence gene.Methods By bioinformatics searching,SLC9A1 and STMN were chosen as candidate genes.Mutation detection was carried out by polymerse chain reation（PCR） and DNA direct sequencing.DNA sequence analysis was made by DNA Star software.Results No disease causative mutation but 2 foregone polymorphisms were identified.Conclusion SLC9A1 and STMN may be excluded as virulence genes for the BFIC.

关 键 词：良性家族性婴儿惊厥 候选基因 突变分析 

分 类 号：R748[医药卫生—神经病学与精神病学]