Variation in the VWF Gene in Swedish patients with type 1 von Willebrand Disease

Anna M. Johansson, Christer Halldén, Torbjörn Säll, Stefan Lethagen

    Forskningsoutput: TidskriftsbidragArtikelPeer review

    Sammanfattning

    The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter haplotype was significantly associated with disease. In 11 patients (20%), more than one mutation or candidate mutation was detected. The allelic identity for the putative disease-causing mutations was approximately 0.1, compatible with an overall disease frequency of 1%. VWF sequences for exon 28 from eight monkey species were compared with the variable positions found in our patients. Positions classified as mutations were overrepresented among sites that were fixed in all eight monkey species. No general increase of the mutation rate was found for the pseudogene region.

    OriginalspråkEngelska
    Sidor (från-till)447-455
    Antal sidor8
    TidskriftAnnals of Human Genetics
    Volym75
    Utgåva4
    DOI
    StatusPublicerad - 2011

    Nationell ämneskategori

    • Medicin och hälsovetenskap (3)

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