title: Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).
abstract: In a previous study on a large pedigree from a genetically isolated population in the Netherlands, we localized a gene for autosomal recessive retinitis pigmentosa with paraarteriolar preservation of the retinal pigment epithelium (PPRPE) on the long arm of chromosome 1. In this study, we present an integrated genetic map of the target region. The resulting genetic order of the markers was used to construct haplotypes and to screen for key-recombinants in the pedigree. The obligate RP12 region was reduced from 16 cM to 5 cM between the markers D1S533 and CACNL1A3. The CACNL1A3 and phosducin (PDC) genes were placed outside the candidate gene region, thereby excluding the involvement of these genes in retinitis pigmentosa with PPRPE. Our data result in the following order of the markers and genes in the region 1q31 --> q32.1: cen-D1S158-(D1S238-D1S422)/PDC- D1S533-RP12/(F13B-D1S413)-CACNL1A3-DIS4 77-D1S306-D1S53-tel.
authors.affiliation: Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: van Soest
authors.forename: S
authors.initials: S
authors.lastname: te Nijenhuis
authors.forename: L I
authors.initials: LI
authors.lastname: van den Born
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: E
authors.initials: E
authors.lastname: Sharp
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: A
authors.initials: A
authors.lastname: Westerveld
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
mesh_terms: D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020555:GTP-Binding Protein Regulators; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D020555:GTP-Binding Protein Regulators; D005819:Genetic Markers; D010750:Phosphoproteins; C065631:phosducin