Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31

Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease–causing gene to chromosome 1q21–q31. Eight markers were significantly linked (Z max > 3.0) to the disease, with the highest lod score 6.5 (θ=0), provided by D1S212 . The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.