title: Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.
abstract: Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has previously been shown to be the case in autosomal dominant retinitis pigmentosa. The availability of a unique inbred Dutch pedigree has enabled us to address this question. We have used an intragenic polymorphism to exclude the possibility that a mutation in the rhodopsin gene is responsible for the disease in this patient population. These data provide evidence for the involvement of at least two loci in autosomal recessively inherited retinitis pigmentosa.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: L M
authors.initials: LM
authors.lastname: Bleeker-Wagemakers
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: L I
authors.initials: LI
authors.lastname: van den Born
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D001483:Base Sequence; D003241:Consanguinity; D004277:DNA, Single-Stranded; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; 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; D064531:Peripherins; D012243:Rhodopsin