FINE MAPPING OF THE AUTOSOMAL-DOMINANT JUVENILE OPEN-ANGLE GLAUCOMA (GLCLA) REGION AND EVALUATION OF CANDIDATE GENES

Juvenile Open Angle Glaucoma (GLC1A) is an autosomal optic neuropathy that has been localized previously to chromosome 1q. Here we report th e fine mapping of the disease region using YACs and a high density of polymorphic microsatellite markers. This study utilized two large JOAG pedigrees genotyped at 36 loci From chromosome 1q21-q31 to refine the GLC1A locus to a similar to 3-cM region flanked by YAC-derived micros atellite markers D1S3665 and D1S3664. The candidate genes LAMC1, NPR1, and CNR2 were excluded from the region by linkage. Four other genes, SELF, SELL, TXGP1, and APT1LG1, were determined to lie within the crit ical region through YAC content and linkage mapping. The YAC-STS conte nt map of the critical region provides the groundwork for the construc tion of a transcription map and the identification of tile disease-cau sing gene.