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 (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.
Sheffield
V C
VC
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
Stone
E M
EM
Alward
W L
WL
Drack
A V
AV
Johnson
A T
AT
Streb
L M
LM
Nichols
B E
BE
D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers; D017461:Receptors, Atrial Natriuretic Factor