Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 35(3): 1077-82, 1994 Mar.
Article
em En
| MEDLINE
| ID: mdl-8125719
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.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Segmento Externo da Célula Bastonete
/
Retinose Pigmentar
/
3',5'-GMP Cíclico Fosfodiesterases
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
Limite:
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article