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  • 1.
    Bergman, Annika
    et al.
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Einbeigi, Zakaria
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Olofsson, Ulrica
    Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
    Taib, Ziad
    Department of Mathematical Statistics, Chalmers University of Technology, Göteborg University, Göteborg, Sweden.
    Wallgren, Arne
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Karlsson, Per
    Department of Oncology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Wahlström, Jan
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    Nordling, Margareta
    Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
    The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation2001In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 9, no 10, p. 787-793Article in journal (Refereed)
    Abstract [en]

    The most recurrent BRCA1/BRCA2 mutation in Sweden is the BRCA1 mutation 3171ins5. In the western part of Sweden this mutation accounts for as much as 77% of identified mutations in these two genes. Our aim was to analyse in detail the haplotype and founder effects of the 3171ins5 and furthermore attempt to estimate the time of origin of the mutation. In the study we included eighteen apparently unrelated families with hereditary breast and/or ovarian cancer. At least one individual in each family had previously tested positive for the 3171ins5 mutation. Polymorphic microsatellite markers were used for the haplotype analyses. The markers were located within or flanking the BRCA1 gene spanning a region of 17.3 cΜ. We found several different haplotypes both for disease alleles and for the normal alleles. However, a conserved haplotype of 3.7 cΜ was observed in the 3171ins5 carriers spanning over four markers located within or very close to the BRCA1 gene. As this haplotype was not present in any of the normal controls it is highly likely that this is a mutation identical by descent, i.e. a true founder. The results from the haplotype analyses were used to estimate the age of the mutation. Estimations based on the Pexcess and linkage disequilibrium gives a first appearance of the mutation sometime around the 6th century, approximately 50 generations ago.

  • 2. Stechova, K
    et al.
    Halbhuber, Z
    Hubackova, M
    Kayserova, J
    Petruzelkova, L
    Vcelakova, J
    Kolouskova, S
    Ulmannova, T
    Faresjö, Maria
    Jönköping University, School of Health Science, HHJ. Biomedical Platform. Jönköping University, School of Health Science, HHJ, Dep. of Natural Science and Biomedicine.
    Neuwirth, A
    Spisek, R
    Sediva, A
    Filipp, D
    Sumnik, Z
    Case report: type 1 diabetes in monozygotic quadruplets2012In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 20, no 4, p. 457-462Article in journal (Refereed)
    Abstract [en]

    Type 1 diabetes (T1D) is an autoimmune disease characterized by the lack of insulin due to an autoimmune destruction of pancreatic beta cells. Here, we report a unique case of a family with naturally conceived quadruplets in which T1D was diagnosed in two quadruplets simultaneously. At the same time, the third quadruplet was diagnosed with the pre-diabetic stage. Remarkably, all four quadruplets were positive for anti-islet cell antibodies, GAD65 and IA-A2. Monozygotic status of the quadruplets was confirmed by testing 14 different short tandem repeat polymorphisms. Serological examination confirmed that all quadruplets and their father suffered from a recent enteroviral infection of EV68-71 serotype. To assess the nature of the molecular pathological processes contributing to the development of diabetes, immunocompetent cells isolated from all family members were characterized by gene expression arrays, immune-cell enumerations and cytokine-production assays. The microarray data provided evidence that viral infection, and IL-27 and IL-9 cytokine signalling contributed to the onset of T1D in two of the quadruplets. The propensity of stimulated immunocompetent cells from non-diabetic members of the family to secrete high level of IFN-α further corroborates this conclusion. The number of T regulatory cells as well as plasmacytoid and/or myeloid dendritic cells was found diminished in all family members. Thus, this unique family is a prime example for the support of the so-called ‘fertile-field’ hypothesis proposing that genetic predisposition to anti-islet autoimmunity is ‘fertilized’ and precipitated by a viral infection leading to a fully blown T1D.

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