Human Genetics

, Volume 101, Issue 1, pp 13–17

Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes

  • Soraya Bardien
  • Rajkumar Ramesar
  • Shomi Bhattacharya
  • J. Greenberg
Original investigation

DOI: 10.1007/s004390050577

Cite this article as:
Bardien, S., Ramesar, R., Bhattacharya, S. et al. Hum Genet (1997) 101: 13. doi:10.1007/s004390050577

Abstract

This group has previously reported the mapping of a novel locus for autosomal dominant retinitis pigmentosa (adRP) in a South African kindred to 17q. Using a new series of microsatellite markers in this study, two-point and multipoint analysis provide evidence for the localization of the disease gene to the 17q22 region. In addition, a second South African adRP family is shown to be linked to this 17q22 locus. Disease-associated haplotypes constructed for both families and multipoint linkage analysis place the gene in the 10-cM interval between D17S1607 and D17S1874. Three candidate genes on 17q were investigated: PDEG, the gamma subunit of rod phosphodiesterase; TIMP2, tissue inhibitor of metalloproteinases-2; and PRKCA, protein kinase C alpha. Recombination events between the adRP locus and: (1) a single-stranded conformation polymorphism in PDEG; and (2) a restriction fragment length polymorphism in TIMP2 provided evidence for the exclusion of these candidate genes as being responsible for adRP in the South African kindred.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Soraya Bardien
    • 1
  • Rajkumar Ramesar
    • 1
  • Shomi Bhattacharya
    • 2
  • J. Greenberg
    • 1
  1. 1.MRC Research Unit for Medical Genetics, Department of Human Genetics, University of Cape Town Medical School, Observatory 7925, South Africa Tel.: +27-21-4066299; Fax: +27-21-477703 e-mail: jg@anat.uct.ac.zaZA
  2. 2.Department of Molecular Genetics, Institute of Ophthalmology, Bath Street, London EC1V 9EL, UKGB

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