title: No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families.
abstract: A linkage analysis has been performed on three Australian families segregating for autosomal dominant retinitis pigmentosa (ADRP). No evidence of linkage has been found in any of the pedigrees studied between the locus D3S47 and the gene for ADRP. The D3S47 locus was found to show very close linkage with the ADRP gene in a large Irish pedigree. Our study together with a similar report on a British family indicates that there is genetic heterogeneity in this disease.
authors.affiliation: Department of Clinical Chemistry, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: J B
authors.initials: JB
authors.lastname: Jiménez
authors.forename: C
authors.initials: C
authors.lastname: Samanns
authors.forename: A
authors.initials: A
authors.lastname: Watty
authors.forename: J
authors.initials: J
authors.lastname: Pongratz
authors.forename: J E
authors.initials: JE
authors.lastname: Olsson
authors.forename: P
authors.initials: P
authors.lastname: Dickinson
authors.forename: R
authors.initials: R
authors.lastname: Buttery
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: M J
authors.initials: MJ
authors.lastname: Denton
mesh_terms: D000293:Adolescent; D000328:Adult; D001315:Australia; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D012243:Rhodopsin