title: Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.
abstract: DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta = 0.00, Z = 5.376). In a series of overlapping multipoint analyses a lod score of 6.6 was obtained, maximizing at HLA-DRA and hence localizing the ADRP gene (RP5) segregating in this pedigree to 6p. These data provide direct evidence for an additional autosomal dominant RP locus and strongly implicate the human equivalent of the mouse retinal degeneration slow (rds) gene, peripherin-rds, as a candidate for autosomal dominant retinitis pigmentosa.
authors.affiliation: Department of Genetics, Trinity College Dublin, Ireland.
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: S A
authors.initials: SA
authors.lastname: Jordan
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: P
authors.initials: P
authors.lastname: McWilliam
authors.forename: V
authors.initials: V
authors.lastname: Allamand
authors.forename: E
authors.initials: E
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; D004247:DNA; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA