Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    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.
    Original languageEnglish
    JournalJournal of Medical Genetics
    Volume44
    Issue number11
    Pages (from-to)718-720
    Number of pages3
    ISSN0022-2593
    DOIs
    Publication statusPublished - 2007
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

    Cite this

    @article{ec0a96becc634bfeae11a59c0912d422,
    title = "Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease",
    abstract = "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.",
    keywords = "311 Basic medicine",
    author = "Pia Vahteristo and A Kokko and Olli Saksela and Kristiina Aittom{\"a}ki and Aaltonen, {Lauri A}",
    year = "2007",
    doi = "10.1136/jmg.2007.051342",
    language = "English",
    volume = "44",
    pages = "718--720",
    journal = "Journal of Medical Genetics",
    issn = "0022-2593",
    publisher = "BMJ Publishing Group Ltd",
    number = "11",

    }

    Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease. / Vahteristo, Pia; Kokko, A; Saksela, Olli; Aittomäki, Kristiina; Aaltonen, Lauri A.

    In: Journal of Medical Genetics, Vol. 44, No. 11, 2007, p. 718-720.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease

    AU - Vahteristo, Pia

    AU - Kokko, A

    AU - Saksela, Olli

    AU - Aittomäki, Kristiina

    AU - Aaltonen, Lauri A

    PY - 2007

    Y1 - 2007

    N2 - 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.

    AB - 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.

    KW - 311 Basic medicine

    U2 - 10.1136/jmg.2007.051342

    DO - 10.1136/jmg.2007.051342

    M3 - Article

    VL - 44

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    EP - 720

    JO - Journal of Medical Genetics

    JF - Journal of Medical Genetics

    SN - 0022-2593

    IS - 11

    ER -