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

Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE.

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 (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 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.

Nature Genetics.
Additional Information: 
1993 May;4(1):47-50.
Publication Date: 
May 1 1993
Pubmed ID: