title: Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes 6, 13, 20, and 21.
abstract: Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for polymorphic DNA markers from chromosomes 6, 13, 20, and 21. For each marker close linkage to ADRP has been excluded by pairwise analyses. Using distances fixed from well-established genetic maps of these chromosomes and multipoint analyses with two or three contiguous markers, exclusion of ADRP was extended to the areas between markers, resulting in the exclusion of ADRP from extensive regions of each chromosome, totaling approximately 500 cM or 15% of the genome. The study indicates the large quantity of linkage/exclusion data obtainable using well-spaced highly polymorphic markers.
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: McWilliam
authors.forename: E M
authors.initials: EM
authors.lastname: Sharp
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: D G
authors.initials: DG
authors.lastname: Bradley
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
authors.forename: D J
authors.initials: DJ
authors.lastname: McConnell
authors.forename: P
authors.initials: P
authors.lastname: Humphries
mesh_terms: D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002890:Chromosomes, Human, Pair 20; D002891:Chromosomes, Human, Pair 21; D002896:Chromosomes, Human, Pair 6; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005819:Genetic Markers