【摘要】 目的检测良性家族性婴儿惊厥—家系的致病基因。方法通过生物信息学查询选择HCRTR1、STX12、HPCA为候选基因,应用Primer 3引物设计、PCR扩增、直接测序的方法进行候选基因的突变检测。序列分析采用DNAStar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1个已知的多态。结论排除HCRTR1、STX12、HPCA为该BFIS家系致病基因的可能。更多还原

【Abstract】 Aim To detect candidate genes for benign familial infantile seizures(BFIS)on a novel locus of chromosome 1p36.12-1p35.1 with genome-wide scan and linkage analysis in one Chinese BFIS family and identify the disease gene responsible for BFIS.Methods HCRTR1,STX12 and HPCA were chosen as candidate genes by bioinformational inqury of all known genes on this locus primer 3 was used to design its primer for sequence amplification by polymerse chain reation(PCR)and DNA direct sequencing.DNA sequence analysis was made by DNAStar software.Results No disease causative mutation was detected but one polymorphisms was identified.Conclusion The candidate genes were excluded as disease gene for the BFIS family.更多还原