ArrayExpress Uploader02913Usher syndromeUsher syndromenormaldominant retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosarecessive retinitis pigmentosaarrayexpress_sid4Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated...18806796E-GEOD-12086/profile/8773/arrayexpressuploader125celldiseasegenomelymphoblastretinaretinitisretinitis pigmentosaDec.12, 2014Falsetranscription-profiling-by-array-of-human-lympho-2E-GEOD-12086_A-AFFY-44Transcription profiling by array of human lymphoblast cell lines from patients with retinitis pigmentosa or Usher syndromeSep.03, 2014Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Experiment Overall Design: We established lymphoblast cell lines from 13 unrelated index patients with recessive RP as well all of their affected siblings (1 sibship with 4 affected members, 5 with 2 affected members, and 7 isolates) and 4 controls. RNA was isolated and hybridized on Affymetrix genechip Human Genome U133Plus2.0. After normalization, expression levels of the individual families were compared to the other samples; significance was tested using the Student t-test. The most significant suitable candidate genes were sequenced to screen for disease causing mutations and/or analyzed for segregation in the family.http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-12086humanhttp://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-12086/samples/