【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。更多还原

【Abstract】 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.更多还原