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Strategies for the genetic analysis of autosomal recessive retinitis pigmentosa in Spanish families

AutorGonzález-Duarte, Roser; Bayés, Mónica; Martínez Mir, Amalia ; Valverde, Diana; Balcells, Susana; Baiget, Montserrat; Vilageliu, L.; Grinberg, Daniel
Palabras claveRetinitis pigmentosa (RP)
Pigment epithelium
Fecha de publicación1997
EditorPlenum Press
CitaciónDegenerative Retinal Diseases: 263-275 (1997)
ResumenWe collected DNA from members of 48 Spanish ARRP families. In order to elucidate the molecular basis of the disease we followed two approaches depending on family size. In small families the analysis of candidate genes is the only possibility, while in large families a genome-wide search for a new ARRP gene can also be pursued. Here we present the results from the study of eleven retina-specific genes: rhodopsin, PDEB, recoverin (RCV1), Santigen (SAG), γ subunit of rod phosphodiesterase (PDEG), peripherin/RDS, rod outer segment membrane protein 1 (ROM1), neural retinal leucine zipper (NRL), cellular retinaldehyde binding protein (CRALBP), interstitial retinol binding protein (IRBP) and guanylate cyclase activating protein (GCAP), as well as the ARRP loci at 1q and 6p. For two of these genes, RCV1 and SAG, a fine genetic mapping was initially performed to identify the closest polymorphisms. In two large pedigrees, a systematic genome search is currently being undertaken after discarding all known RP loci.
Descripción18 páginas, 3 figuras, 4 tablas. Edited by Matthew M. LaVail, Joe G. Hollyfield and Robert. E. Anderson. Proceedings of the 7th International Symposium on Retinal Degenerations, held october 5-9, 1996, in Sendai, Japan. Emphasizes molecular genetics of retinal degenerations, particularly in the areas of candidate genes and cloning and mapping.
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