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Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease
  1. P Vahteristo1,
  2. A Kokko1,
  3. O Saksela2,
  4. K Aittomäki3,
  5. L A Aaltonen1
  1. 1
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
  2. 2
    Department of Dermatology, Helsinki University Central Hospital (HUCH), Helsinki, Finland
  3. 3
    Department of Clinical Genetics, HUCH, Helsinki, Finland
  1. Lauri A Aaltonen, Department of Medical Genetics, Biomedicum Helsinki, PO Box 63, 00014 University of Helsinki, Finland; lauri.aaltonen{at}


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 to unravelling dominant tumour susceptibility. In this study, we extended our investigations to recessively inherited tumour predisposition, and identified a homozygous germline mutation in the damage-specific DNA binding protein 2 (DDB2) gene in a patient with several facial tumours, for which doctors had been unable to provide a diagnosis. Our results provide proof of principle that BGT is a powerful approach for both dominant and recessive genes. In addition to tumour susceptibility, the method may be useful in characterising genetic defects underlying other disease phenotypes.

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

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  • Ethics approval: Patient information and samples were obtained with full informed consent. The study was approved by the appropriate ethics review committee of the Hospital District of Helsinki and Uusimaa.

  • Funding: This work has been financially supported by the Academy of Finland (Center of Excellence in Translational Genome-Scale Biology 2006–2010, grant 212901 for PV) and Finnish Cultural Foundation.

  • Competing interests: None.

  • Abbreviations:
    blood genome and transcriptome
    damage-specific DNA binding protein 2
    nucleotide excision repair
    unscheduled DNA synthesis
    xeroderma pigmentosum