Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders

摘要: PURPOSE. To characterize the genomic organization of human IMPG2, gene encoding retinal interphotoreceptor matrix (IPM) proteoglycan IPM 200, to evaluate its relationship 150, and involvement in inherited retinopathies, such as age-related macular degeneration, retinitis pigmentosa, Leber congenital amaurosis. METHODS. After isolation clones, structure IMPG2 was determined by sequence analysis. Mutational analyses were conducted on DNA isolated from 316 probands using single-strand conformation polymorphism RESULTS. The is organized into 19 exons, highly similar that IMPG1 gene, which encodes another proteoglycan, 150. indicate observed changes are present at approximately equal rates donors with without disease. Additional data derived RT-PCR Northern blot analysis show processed retina multiple alternatively sized transcripts may represent splicing isoforms. CONCLUSIONS. Analysis overall (located chromosome 3q12.2-12.3) 6q14) suggests these genes have evolved a common ancestral gene. Although this an excellent candidate for hereditary provided no evidence variations coding region responsible retinopathies examined. (Invest Ophthalmol Vis Sci. 2001;42:3123‐3129)