Journal Mobile Options
Table of Contents
Vol. 73, No. 1-2, 1996
Issue release date: 1996
Section title: Gene Mapping, Cloning, and Sequencing
Cytogenet Cell Genet 1996;73:81–85
(DOI:10.1159/000134313)

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)

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Gene Mapping, Cloning, and Sequencing

Accepted: 5/1/1995
Published online: 5/20/2008
Issue release date: 1996

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

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 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


  

Author Contacts

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.

  

Article Information

Received: 1 May 1995
Published online: May 20, 2008
Number of Print Pages : 5

  

Publication Details

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


Article / Publication Details

First-Page Preview
Abstract of Gene Mapping, Cloning, and Sequencing

Accepted: 5/1/1995
Published online: 5/20/2008
Issue release date: 1996

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.