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E-GEOD-6351 - Transcription profiling of human peripheral blood from healthy and predisposed individuals reveals a homozygouse germline mutation in the DDB2 gene in a patient with severe facial tumors

Released on 14 June 2008, last updated on 27 March 2012
Homo sapiens
Samples (15)
Array (1)
Protocols (7)
Characterization of the underlying genetic defects in patients with a rare and peculiar phenotype is challenging. Here we have utilized whole genome expression profiling, and identified a homozygous germline mutation in the DDB2 gene in a patient with several facial tumors. The feasibility of using blood derived RNA, diminishing costs of the technology, and the limited number of samples needed provide this approach a powerful new tool that may substantially aid in such gene identification efforts. Experiment Overall Design: RNA from patient’s and his parents’ blood samples, as well as from twelve individuals available from other projects, were subjected to Human GeneChip U133 Plus 2.0 whole genome expression arrays (Affymetrix).
Experiment types
transcription profiling by array, unknown experiment type
Antti Kokko
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease. P Vahteristo, A Kokko, O Saksela, K Aittomäki, L A Aaltonen.
Investigation descriptionE-GEOD-6351.idf.txt
Sample and data relationshipE-GEOD-6351.sdrf.txt
Raw data (1)
Processed data (1)
Array designA-AFFY-44.adf.txt
R ExpressionSetE-GEOD-6351.eSet.r