Prothrombin C20209T mutation in deep vein thrombosis: A case report

Mariela Muñoz, Cristian Vilos, Mario Cantín

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)11225-11229
Number of pages5
JournalInternational Journal of Clinical and Experimental Medicine
Volume8
Issue number7
Publication statusPublished - 30 Jul 2015

Keywords

  • 3'Untranslated region
  • C20209T
  • Mutation
  • Prothrombin
  • Thrombophilia

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry,Genetics and Molecular Biology

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