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Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline->histidine substitution (codon 23) in pedigrees from Europe


Farrar, G Jane; Kenna, Paul F; Redmond, R; McWilliam, P; Bradley, D G; Humphries, M M; Sharp, E M; Inglehearn, Chris F; Bashir, R; Jay, M; Watty, A; Ludwig, M; Schinzel, Albert; Samanns, C; Gal, A; Bhattacharya, S; Humphries, P (1990). Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline->histidine substitution (codon 23) in pedigrees from Europe. American Journal of Human Genetics, 47(6):941-5.

Abstract

In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found to be absent in all cases, including a large Irish pedigree in which the disease gene has previously been shown to be closely linked to the rhodopsin locus. This indicates the presence of either allelic or nonallelic heterogeneity in ADRP.

Abstract

In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal dominant retinitis pigmentosa (ADRP) patients. The region around the site of this mutation in the rhodopsin gene has been amplified and analyzed in affected individuals from 91 European ADRP pedigrees. The codon 23 mutation has been found to be absent in all cases, including a large Irish pedigree in which the disease gene has previously been shown to be closely linked to the rhodopsin locus. This indicates the presence of either allelic or nonallelic heterogeneity in ADRP.

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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:December 1990
Deposited On:20 Oct 2023 11:42
Last Modified:29 Apr 2024 01:40
Publisher:Elsevier
ISSN:0002-9297
Additional Information:Genetics (clinical), Genetics,
OA Status:Closed
Official URL:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683905/
Related URLs:http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC1683905&blobtype=pdf (Library Catalogue)
PubMed ID:2239971
Other Identification Number:Corpus ID: 13319603 / PMCID: PMC1683905