GENETIC-LINKAGE OF FAMILIAL OPEN-ANGLE GLAUCOMA TO CHROMOSOME-1Q21-Q31

Citation
Vc. Sheffield et al., GENETIC-LINKAGE OF FAMILIAL OPEN-ANGLE GLAUCOMA TO CHROMOSOME-1Q21-Q31, Nature genetics, 4(1), 1993, pp. 47-50
Citations number
37
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
10614036
Volume
4
Issue
1
Year of publication
1993
Pages
47 - 50
Database
ISI
SICI code
1061-4036(1993)4:1<47:GOFOGT>2.0.ZU;2-#
Abstract
Glaucoma is a significant cause of blindness world wide. There is evid ence to suggest that at least a subset of the disease is determined ge netically. We studied 37 members of a family affected with an autosoma l dominant form of juvenile open angle glaucoma and 22 were found to b e affected. Linkage analysis using short tandem repeat markers mapped the disease-causing gene to chromosome 1q21-q31. Eight markers were si gnificantly linked (Z(max) > 3.0) to the disease, with the highest lod score 6.5 (theta=0), provided by D1S212. The atrial natriuretic pepti de (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.