LOCALIZATION OF THE GENE FOR DOMINANT CYSTOID MACULAR DYSTROPHY ON CHROMOSOME 7P

Citation
H. Kremer et al., LOCALIZATION OF THE GENE FOR DOMINANT CYSTOID MACULAR DYSTROPHY ON CHROMOSOME 7P, Human molecular genetics, 3(2), 1994, pp. 299-302
Citations number
25
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
2
Year of publication
1994
Pages
299 - 302
Database
ISI
SICI code
0964-6906(1994)3:2<299:LOTGFD>2.0.ZU;2-8
Abstract
In a family with autosomal dominant cystoid macular dystrophy (DCMD) l inkage was detected with the dinucleotide marker D7S435 on the short a rm of chromosome 7. With markers flanking D7S435, the DCMD locus could be assigned to the interval D7S493-D7S526 at 7p15-p21, which spans ap proximately 20 cM. Three-point linkage yielded a maximal lod score of 9.46 and location score of 43.5 and suggested that DCMD is 5,5 cM prox imal to D7S493. Recently, a retinitis pigmentosa (RP7) locus has been mapped in roughly the same area of chromosome 7. Genetic data of both studies described below, allow a region of overlap between the locatio n of the DCMD and the RP7 gene between D7S435 and D7S526. Both genes b eing one and the same will further substantiate the close relationship between macular degeneration and retinitis pigmentosa.