title: Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
abstract: Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation cosegregates with the disease with a lod score of 12.1 at theta = 0.0.
authors.affiliation: Department of Genetics, Trinity College Dublin, Ireland.
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: E M
authors.initials: EM
authors.lastname: Sharp
authors.forename: D
authors.initials: D
authors.lastname: Sheils
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002896:Chromosomes, Human, Pair 6; D004277:DNA, Single-Stranded; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D004277:DNA, Single-Stranded; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012243:Rhodopsin