Project name: Homo sapiens

Description: We analyzed samples from fourteen deaf individuals (Affected 1 through 14), fifteen hearing maternally related family members (Unaffected 1-15), six marry-in controls (Controls 1-6) from extended pedigree from Arab-Israeli village, and nine individuals from another Arab-Israeli village (Controls 7-15). All affected and unaffected maternally-related individuals carry homoplasmic mutation in the 12S rRNA gene of the mitochondrial DNA, associated with both non-syndromic and aminoglycosides-induced deafness.Keywords: Comparison of genome-wide expression in cell lines of maternally-related individuals with mitochondrial mutation and controls carrying wild-type mitochondrial chromosome.Overall design: Lymphoblastoid cell lines established from peripheral blood lymphocytes of study participants and immortalized with Epstein-Barr virus, were grown in suspension in T flasks in RPMI-1640 medium (Invitrogen, Inc., Carlsbad, CA), containing 2 mmol/L L-glutamine, 100 ug/ml streptomycin, and 10% fetal calf serum. Total RNA was extracted using Trizol reagent (Invitrogen, Inc.) according to the manufacturer?s protocol. cRNA amplification and labeling with biotin were performed using Illlumina® TotalPrep RNA amplification kit, manufactured by Ambion, Inc (Austin, TX) according to the manufacturer?s protocol using 100 ng of total RNA as input material. 1ug of labeled cRNAs were hybridized to the eight ?whole genome? Sentrix Human-6 v2 Expression BeadChips (Illumina, San Diego, CA). RNA sample from patient Unaffected 2 was duplicated on the same chip; RNA sample from Affected 3 was analyzed in triplicate: two on the same chip, and one on a different chip. All hybridization and scanning steps were performed according to the manufacturers? instructions using reagents and equipment purchased from Illumina, Inc

Data type: Transcriptome or Gene expression

Sample scope: Multiisolate

Relevance: Medical

Release date: 2009-06-01

Last updated: 2007-12-07