Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
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.
Farrar
G J
GJ
Department of Genetics, Trinity College, Dublin, Ireland.
Kenna
P
P
Redmond
R
R
McWilliam
P
P
Bradley
D G
DG
Humphries
M M
MM
Sharp
E M
EM
Inglehearn
C F
CF
Bashir
R
R
Jay
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D005060:Europe; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006639:Histidine / Q000737:chemistry; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000737:chemistry; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics*
D003062:Codon; D006639:Histidine; D012243:Rhodopsin; D011392:Proline