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Invest Ophthalmol Vis Sci. 1994 Mar;35(3):1077-82.

Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.

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  • 1Howe Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114.

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.

PMID:
8125719
[PubMed - indexed for MEDLINE]
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