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Updated: Oct 5, 2026
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locus
A M Lichanska1, D McGibbon, G Silvestri
1Department of Medical Genetics, The Queen's University of Belfast, Belfast, Northern Ireland, UK. A.Lichanska@qub.ac.uk
Abstract:
Central areolar choroidal dystrophy (CACD) causes bilateral irreversible central visual loss in the 5th to 7th decades. The authors previously described a large pedigree with the disorder, which showed linkage to chromosome 17p13.2-->p13.1 between microsatellite markers D17S1353 and D17S1810. 17p13 is very rich in genes that cause retinal diseases. We have now constructed a detailed and ordered physical map of the critical CACD region which spans up to 2.4 Mb. The new transcript map contains thirteen genes and seven expressed sequence tags (ESTs) that are eye-expressed, and therefore are positional candidates. Several of these have been screened, but no disease-causing mutations were found in CACD patients.
