000032462 001__ 32462
000032462 005__ 20190930125522.0
000032462 0247_ $$2doi$$a10.11613/BM.2014.018
000032462 0248_ $$2sideral$$a81191
000032462 037__ $$aART-2014-81191
000032462 041__ $$aeng
000032462 100__ $$0(orcid)0000-0002-7615-2399$$aIzquierdo, S
000032462 245__ $$aA deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient
000032462 260__ $$c2014
000032462 5060_ $$aAccess copy available to the general public$$fUnrestricted
000032462 5203_ $$aIntroduction: Additional nucleotide substitutions in the 3 ´-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient.
Case and methods: The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after im- mobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be deter- mined using the PTH-FV-MTHFR StripAssay (Vienna Lab).
Results: Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip.
Conclusion: The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the pa- tient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.
000032462 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000032462 590__ $$a2.667$$b2014
000032462 591__ $$aMEDICAL LABORATORY TECHNOLOGY$$b7 / 30 = 0.233$$c2014$$dQ1$$eT1
000032462 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000032462 700__ $$0(orcid)0000-0001-5603-3045$$aBarrio, E$$uUniversidad de Zaragoza
000032462 700__ $$aLlinares, FM
000032462 700__ $$aLorente, F
000032462 700__ $$aCalvo, MT
000032462 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000032462 773__ $$g24, 1 (2014), 159-166$$pBiochemia Medica$$tBiochemia Medica$$x1330-0962
000032462 8564_ $$s1642999$$uhttps://zaguan.unizar.es/record/32462/files/texto_completo.pdf$$yVersión publicada
000032462 8564_ $$s8683$$uhttps://zaguan.unizar.es/record/32462/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000032462 909CO $$ooai:zaguan.unizar.es:32462$$particulos$$pdriver
000032462 951__ $$a2019-09-30-12:52:45
000032462 980__ $$aARTICLE