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Blood derived gene expression profiling in unraveling recessive disease susceptibility
  1. Pia Vahteristo (pia.vahteristo{at}
  1. University of Helsinki, Finland
    1. Antti Kokko (antti.kokko{at}
    1. University of Helsinki, Finland
      1. Olli Saksela (olli.saksela{at}
      1. Helsinki University Central Hospital, Finland
        1. Kristiina Aittomaki (kristiina.aittomaki{at}
        1. Helsinki University Central Hospital, Finland
          1. Lauri A Aaltonen (lauri.aaltonen{at}
          1. University of Helsinki, Finland


            Identification of new disease predisposition genes with chip-based technologies typically requires extensive financial and sample resources. We have recently shown that combining peripheral blood genome and transcriptome (BGT) information in highly selected materials can be a successful low-cost approach in unraveling dominant tumor susceptibility. Here we have extended our studies to recessively inherited tumor predisposition, and identified a homozygous germline mutation in the damage-specific DNA binding protein 2 (DDB2) gene in a patient with several facial tumors and previously unsolved diagnosis. Our results provide proof-of-principle that BGT is a powerful approach both in dominant and recessive setting. Besides tumor susceptibility, the method may be useful in characterizing a genetic defect underlying any other disease phenotype.

            • DDB2
            • Xeroderma pigmentosum
            • blood
            • complementation group E
            • expression profiling

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