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Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa


Gal, Andreas; Artlich, Andreas; Ludwig, Michael; Niemeyer, Günter; Olek, Klaus; Schwinger, Eberhard; Schinzel, Albert (1991). Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics, 11(2):468-470.

Abstract

It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different mutations (Pro-347-Ser and Pro-347-Leu) have already been reported. Direct sequencing of the patients' DNA revealed a previously undescribed CCG----CGG transversion in codon 347 predicting a Pro----Arg substitution. Ophthalmological data of the patients are summarized and compared to those of patients with other mutations in the rhodopsin gene.

Abstract

It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different mutations (Pro-347-Ser and Pro-347-Leu) have already been reported. Direct sequencing of the patients' DNA revealed a previously undescribed CCG----CGG transversion in codon 347 predicting a Pro----Arg substitution. Ophthalmological data of the patients are summarized and compared to those of patients with other mutations in the rhodopsin gene.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical), Base Sequence, DNA Probes, Humans, Molecular Sequence Data, Mutation / genetics, Oligonucleotides / chemical synthesis, Oligonucleotides / genetics, Pedigree, Phenotype, Polymerase Chain Reaction, Restriction Mapping, Retinitis Pigmentosa / diagnosis, Retinitis Pigmentosa / genetics, Rhodopsin / genetics
Language:English
Date:1 October 1991
Deposited On:27 Sep 2023 17:13
Last Modified:30 Mar 2024 04:43
Publisher:Elsevier
ISSN:0888-7543
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/0888-7543(91)90159-c
PubMed ID:1840561
Other Identification Number:Corpus ID: 33969649