Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
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.
Gal
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Institut für Humangenetik, Medizinische Universität, Lübeck, Federal Republic of Germany.
Artlich
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A
Ludwig
M
M
Niemeyer
G
G
Olek
K
K
Schwinger
E
E
Schinzel
A
A
D001483:Base Sequence; D015342:DNA Probes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009841:Oligonucleotides / Q000138:chemical synthesis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D015342:DNA Probes; D009841:Oligonucleotides; D012243:Rhodopsin