Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)van Soest S.a · te Nijenhuis S.a · van den Born L.I.a,b · Bleeker-Wagemakers E.M.a · Sharp E.c · Sandkuijl L.A.d · Westerveld A.e · Bergen A.A.B.a
aDepartment of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam (The Netherlands): bInstitute of Ophthalmology, Erasmus University, Rotterdam (The Netherlands); cDepartment of Genetics, Trinity College, Dublin (Ireland); d Institute of Clinical Genetics, Erasmus University, Rotterdam, and Department of Human Genetics, University of Leiden, Leiden (The Netherlands); eDepartment of Human Genetics, University of Amsterdam, Amsterdam (The Netherlands)
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 para-arteriolar 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 CACNLl A3. 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–DlS158–(DlS238–DlS422VPDC–D1S533–RP12/(F13B–D1S413) –CACNL1A3–D1S477–DlS306–DlS53–tel.
© 1996 S. Karger AG, Basel
Request reprints from Dr. Simone van Soest, Department of Ophthalmogenetics. The Netherlands Ophthalmic Research Institute, PO Box 12141, 1100 AC Amsterdam (The Netherlands); telephone: +31-20-5664598; fax: +31-20-6916521.
Received: 1 May 1995
Published online: May 20, 2008
Number of Print Pages : 5
Cytogenetic and Genome Research
Vol. 73, No. 1-2, Year 1996 (Cover Date: 1996)
Journal Editor: Schmid M. (Würzburg)
ISSN: 1424–8581 (Print), eISSN: 1424–859X (Online)
For additional information: http://www.karger.com/CGR