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

ABSTRACT: 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).

ORGANISM(S): Homo sapiens

SUBMITTER: Antti Kokko 

PROVIDER: E-GEOD-6351 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress