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Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP

Lookup NU author(s): Dr Janet Lindsey, Dr Surinder Papiha


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Genetic studies have revealed that 25 to 30% of autosomal dominant retinitis pigmentosa (adRP) families have mutations in the rhodopsin gene, while the remainder do not. More recently linkage data and mutation detection have demonstrated two further loci implicated in adRP, at an as yet unidentified gene on chromosome 8p and at the human gene homologue of the mouse Rds (Retinal Degeneration Slow) gene on chromosome 6p. We have previously reported exclusion of adRP from the rhodopsin locus on 3q in two large adRP families. We now report exclusion data for both families, on chromosomes 6 and 8, demonstrating that the adRP phenotype results from mutations in at least four locations.

Publication metadata

Author(s): Bashir R, Inglehearn CF, Keen TJ, Lindsey JC, Atif U, Carter SA, Stephenson AM, Jackson A, Jay M, Bird AC, Papiha SS, Bhattacharya SS

Publication type: Article

Publication status: Published

Journal: Genomics

Year: 1992

Volume: 14

Issue: 1

Pages: 191-193

Print publication date: 01/09/1992

ISSN (print): 0888-7543

ISSN (electronic): 1089-8646

Publisher: Academic Press


DOI: 10.1016/S0888-7543(05)80306-4

PubMed id: PMID: 1427


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