title: Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.
abstract: We recently reported the localization of a gene for late-onset autosomal dominant retinitis pigmentosa (adRP; RP6), on the short arm of chromosome 6, by linkage analysis in a large family of Irish origin. It is notable that the gene encoding peripherin-RDS, a photoreceptor-specific protein, recently has been physically mapped on 6p. In our own analysis, an intrageneic marker derived from this gene cosegregated with the adRP disease locus with zero recombination (lod score 5.46 at q = .00). Using the CEPH reference panel, we now report the mapping of the peripherin-RDS gene relative to other 6p markers in the CEPH data base. Incorporation of these data into a multipoint analysis produced a lod score for adRP of 8.21, maximizing at the peripherin-RDS locus. This study provides strong evidence suggesting a role for peripherin-RDS in the etiology of one form of adRP.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: V
authors.initials: V
authors.lastname: Allamand
authors.forename: E M
authors.initials: EM
authors.lastname: Sharp
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007494:Ireland; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D064531:Peripherins; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000737:chemistry*
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins