Transcription profiling of human lymphoblast cell lines from 13 unrelated index patients and siblings

ABSTRACT: Recessive 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 teste

ORGANISM(S): Homo sapiens

SUBMITTER: Dyonne Hartong 

PROVIDER: E-GEOD-12086 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress