Title: Cloning to Exclude 8 Candidate Genes Located in Chromosome 1p36.12~1p35.1 for BFIS
Abstract: 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.
Publication Year: 2012
Publication Date: 2012-01-01
Language: en
Type: article
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