Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
- 1 May 1993
- journal article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 4 (1), 47-50
- https://doi.org/10.1038/ng0593-47
Abstract
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.Keywords
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