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Nat Genet. 1993 May;4(1):47-50.

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

Author information

1
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.

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.

PMID:
8513321
DOI:
10.1038/ng0593-47
[Indexed for MEDLINE]

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