title: Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.
abstract: Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for genetic heterogeneity in ADRP.
authors.affiliation: MRC Research Unit for Inherited Skeletal Disorders, Department of Human Genetics, University of Cape Town, Medical School, South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: M
authors.initials: M
authors.lastname: Babaya
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013019:South Africa; D006113:United Kingdom / Q000208:ethnology