title: [Molecular cloning of the genes in genetic chorioretinal diseases--positional cloning and the candidate gene approach].
abstract: Two different molecular biological approaches to the disease-causing genes of genetic eye diseases are described. In gyrate atrophy of the chroid and retina where the biochemical defect was identified as inactivation of ornithine aminotransferase, the gene was cloned by using antibody for the enzyme. In most genetic eye diseases, however, the biochemical defects are unknown. Positional cloning and/or the candidate gene approach are used to identify the disease-causing genes for these diseases. The genes of chroideremia and Norrie disease were cloned by positional cloning. Several genes expressed in the photoreceptor cells have been identified recently and may be the genes causing progressive degeneration of the retina and choroid. Rhodopsin, peripherin (RDS), rom-1, and beta subunit-cGMP phosphodiesterase are identified as the disease-causing genes for retinitis pigmentosa by the candidate gene approach.
authors.affiliation: Department of Ophthalmology, Keio University School of Medicine.
authors.forename: Y
authors.initials: Y
authors.lastname: Mashima
authors.forename: M
authors.initials: M
authors.lastname: Saga
authors.forename: Y
authors.initials: Y
authors.lastname: Oguchi
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics; D000818:Animals; D015862:Choroid Diseases / Q000209:etiology / Q000235:genetics*; D003001:Cloning, Molecular / Q000379:methods*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D010786:Photoreceptor Cells; D012333:RNA, Messenger; D012162:Retinal Degeneration / Q000235:genetics; D012164:Retinal Diseases / Q000209:etiology / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012333:RNA, Messenger; D012243:Rhodopsin; D015106:3',5'-Cyclic-GMP Phosphodiesterases