Positional cloning in Xp22 : towards the isolation of the gene involved in X-linked retinoschisis

Abstract

The study was aimed at the positional cloning of disease genes in Xp22.1-p22.2. To this end a YAC contig covering this region was constructed. To identify candidate genes for the diseases localised in this region exon trapping was applied. Several novel transcripts were isolated from the region, of which one was analysed in detail.Anthropogenetica ULGenoomkartering en moleculaire cytogenetic