March 1994
Volume 35, Issue 3
Free
Articles  |   March 1994
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
Author Affiliations
  • L B Hahn
    Howe Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114.
  • E L Berson
    Howe Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114.
  • T P Dryja
    Howe Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114.
Investigative Ophthalmology & Visual Science March 1994, Vol.35, 1077-1082. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      L B Hahn, E L Berson, T P Dryja; Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.. Invest. Ophthalmol. Vis. Sci. 1994;35(3):1077-1082.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

PURPOSE: To determine whether defects in the gene encoding the gamma subunit of rod cyclic guanosine monophosphate-phosphodiesterase (PDE-g) cause some form of hereditary retinal degeneration or dysfunction. METHODS: A restriction map, an intron/exon map, and a partial sequence of the human genomic locus corresponding to this gene were ascertained. Based on this information, the single-strand conformation polymorphism technique (SSCP) was used to screen the coding region as well as most splice donor and acceptor sites for mutations in a total of 704 unrelated patients with retinitis pigmentosa, Usher's syndrome type I or type II, Leber's congenital amaurosis, the Laurence-Moon-Bardet-Biedl syndrome, or other hereditary retinal disease. RESULTS: Two frequent polymorphisms were found, as well as three rare sequence variations, none of which correlated with any phenotype examined. CONCLUSIONS: In view of these negative results and those of a previously published negative Southern blot analysis of an overlapping set of patients, it is unlikely that mutations in the PDE-g gene are a common cause of any of the forms of retinal degeneration or dysfunction so far examined.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×