Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations

Yong Qing Gao; Michael Danciger; Reid Longmuir; Natik I Piriev; Dan Yun Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Edwin M Stone; Debora B Farber

Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations

Journal article

Peer reviewed

Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations

Yong Qing Gao, Michael Danciger, Reid Longmuir, Natik I Piriev, Dan Yun Zhao, John R Heckenlively, Gerald A Fishman, Richard G Weleber, Samuel G Jacobson, Edwin M Stone, …

Investigative ophthalmology & visual science, Vol.40(8), pp.1818-1822

07/1999

PMID: 10393054

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Abstract

To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa. The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly. Although many sequence variants were found, none could be associated with disease. The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies).

Genetic Testing

Retinal Degeneration - genetics

3',5'-Cyclic-GMP Phosphodiesterases - genetics

Electrophoresis, Polyacrylamide Gel

Humans

Exons - genetics

DNA Primers - chemistry

Sequence Analysis, DNA

Polymorphism, Single-Stranded Conformational

Point Mutation

Retinal Cone Photoreceptor Cells - enzymology

Cyclic Nucleotide Phosphodiesterases, Type 6

Eye Proteins - genetics

Retinal Degeneration - enzymology

Details

Title: Subtitle: Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations
Creators: Yong Qing Gao - Jules Stein Eye Institute, University of California Los Angeles School of Medicine, CA 90095-7008, USA
Michael Danciger
Reid Longmuir
Natik I Piriev
Dan Yun Zhao
John R Heckenlively
Gerald A Fishman
Richard G Weleber
Samuel G Jacobson
Edwin M Stone
Debora B Farber
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.40(8), pp.1818-1822
PMID: 10393054
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: EY08285 / NEI NIH HHS EY05627 / NEI NIH HHS EY00331 / NEI NIH HHS
Language: English
Date published: 07/1999
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980009602771

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