FINE LOCALIZATION OF THE GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHYON CHROMOSOME 17P

Citation
Ae. Hughes et al., FINE LOCALIZATION OF THE GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHYON CHROMOSOME 17P, Journal of Medical Genetics, 35(9), 1998, pp. 770-772
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
35
Issue
9
Year of publication
1998
Pages
770 - 772
Database
ISI
SICI code
0022-2593(1998)35:9<770:FLOTGF>2.0.ZU;2-O
Abstract
Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle a ge. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromos ome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 was identified recently b y a genome wide Linkage search in members of a large Northern Irish fa mily. We now report the refinement of the critical region for this gen e to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03.