title: Prothrombin C20209T mutation in deep vein thrombosis: a case report.
abstract: Thrombophilias is a recognized risk factor for thrombotic events. The prothrombin variant G20210A gene mutation has been commonly examined using polymerase chain reaction (PCR). Currently, in many clinical laboratories, performing the PCR in real-time technique, which, in addition to identifying the G20210A mutation, makes possible the detection of other mutations in the 3'UTR of the prothrombin gene by melting curve analysis, due to the ability of this analysis to be amplicon-dependent (e.g., C20209T, C20221T and A20218G). We report the first case in Chile that describes the atypical prothrombin C20209T mutation, in a 50-year-old male patient diagnosed with deep vein thrombosis in the lower limb and family history of thrombophilia. In the literature, there are few studies of the prevalence and functionality of this mutation; its association with thrombotic events is controversial.
authors.affiliation: School of Medical Technology, Faculty of Health Sciences, Universidad Santo Tomás Temuco, Chile ; Fellow Researcher, Universidad Científica del Sur Lima, Perú
authors.forename: Mariela
authors.initials: M
authors.lastname: Muñoz
authors.affiliation: Center for Integrative Medicine and Innovative Science (CIMIS), Universidad Andres Bello Facultad de Medicina, Santiago, Chile ; Center for the Development of Nanoscience and Nanotechnology CEDENNA FB0807 Santiago, Chile.
authors.forename: Cristian
authors.initials: C
authors.lastname: Vilos
authors.affiliation: CIMA Research Group, Faculty of Dentistry, Universidad de La Frontera Temuco, Chile ; Doctoral Program in Morphological Sciences, CEMyQ, Faculty of Medicine, Universidad de La Frontera Temuco, Chile ; Center of Research in Biomedical Sciences, Universidad Autónoma de Chile Temuco, Chile.
authors.forename: Mario
authors.initials: M
authors.lastname: Cantín
keywords: 3’Untranslated region; C20209T; mutation; prothrombin; thrombophilia