新的良性家族性婴儿惊厥一候选基因的突变分析

Mutation analysis of a candidate gene for one Chinese BFIC family with a novel locus

目的:对一个致病基因已定位于1p36.12～1p35.1的BFIC家系进行位置功能候选克隆研究。方法:引物设计应用在线引物设计软件—Primer 3,采取PCR扩增,直接测序的方法进行候选基因ATPIF1的突变分析。序列分析采用DNATAR软件。结果:未发现与疾病表型共分离的致病突变,但其中发现3个已知的多态(IVS1-19a→g,IVS3-69a→g,IVS3-96a→g)。结论:排除ATPIF1为BFIC致病基因的可能。

Objective：We have mapped the benign familial infantile convulsions （BFIC） gene to chromosome 1p36.12-1p35.1 by genome-wide scan and linkage analysis in one Chinese benign familial infantile convulsions family.To identify the gene defect responsible for BFIC,we choose one candidate genes to mutation analysis.Methods：Through looking up bioinformatics,we chose ATPIF1 as candidate gene and uesd primer3 to design its primer.Mutation analysis was carried out by polymerse chain reaction （PCR） and DAN direct sec- quencing.DNA sequence analysis was made by DNAStar software.Results：No disease causative mutation but three polymorphisms （IVS1- 19a→g, IVS3-69a→g, IVS3-96a→g）were identified.Conclusion：The candidate gene was excluded as pathogenic gene for BFIC.