title: Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.
abstract: Retinitis Pigmentosa (RP) is a group of inherited retinopathies which affect approximately 1 in 4,000 individuals. The disorder can be classified on the basis of inheritance; dominant, recessive and X-linked forms have been well documented. The existence of genetic heterogeneity within autosomal dominant RP (adRP) had been previously demonstrated. As a result of extensive linkage studies in 2 large Irish families and 1 American pedigree three adRP genes have been mapped. adRP genes have been localised to chromosome 3q close to the rod photoreceptor gene, rhodopsin; to chromosome 6p close to another transmembrane photoreceptor gene, peripherin/RDS and to the pericentric region of chromosome 8, although the causative gene in this region has not yet been identified. Here we report the results of a linkage study in a Spanish family, who exhibit an early-onset form of adRP. The adRP gene segregating in this family has been excluded from the three known adRP loci on chromosomes 3q, 6p and 8 using a series of both intragenic microsatellite markers from the rhodopsin and peripherin/RDS genes and markers flanking the three known loci. These results provide definitive evidence for the existence of a fourth adRP locus, further emphasising the genetic heterogeneity that exists within adRP.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: T
authors.initials: T
authors.lastname: del Rio
authors.forename: N
authors.initials: N
authors.lastname: Soriano
authors.forename: B
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: J
authors.initials: J
authors.lastname: Benitez
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
chemical_list: D005819:Genetic Markers; D012243:Rhodopsin