32462 20190930125522.0 doi 10.11613/BM.2014.018 sideral 81191 ART-2014-81191 eng (orcid)0000-0002-7615-2399 Izquierdo, S A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient 2014 Access copy available to the general public Unrestricted Introduction: Additional nucleotide substitutions in the 3 ´-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient. Case and methods: The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after im- mobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be deter- mined using the PTH-FV-MTHFR StripAssay (Vienna Lab). Results: Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip. Conclusion: The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the pa- tient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events. info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ 2.667 2014 MEDICAL LABORATORY TECHNOLOGY 7 / 30 = 0.233 2014 Q1 T1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion (orcid)0000-0001-5603-3045 Barrio, E Universidad de Zaragoza Llinares, FM Lorente, F Calvo, MT 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 24, 1 (2014), 159-166 Biochemia Medica Biochemia Medica 1330-0962 1642999 http://zaguan.unizar.es/record/32462/files/texto_completo.pdf Versión publicada 8683 http://zaguan.unizar.es/record/32462/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:32462 articulos driver 2019-09-30-12:52:45 ARTICLE