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Rev. méd. Chile ; 133(12): 1425-1433, dic. 2005. ilus, tab
Article Dans Espagnol | LILACS | ID: lil-428525

Résumé

Background: Factor V Leiden and G20210A mutation of prothrombin gene are two important genetic polymorphisms associated with an increased risk for thrombosis. Aim: To establish the prevalence of factor V Leiden and prothrombin G20210A mutation in the Chilean population and their association to venous and arterial thromboembolism. Material and methods: A case-control study was conducted where 149 patients with thrombosis (87 with arterial and 62 with venous thrombosis) confirmed by CAT-scan, electrocardiogram and cardiac enzymes or Doppler depending on the case, and 160 healthy blood donors were genetically analyzed for the presence of both polymorphisms. Results: Factor V Leiden mutation was found in 5.4% of patients and in 1.3% of healthy controls (p=0.04). Heterozygosity for G20210A prothrombin mutation was found in 5.4% of patients and in 2.5% of the control group (p=NS). When arterial and venous thrombosis were considered as separate entities, 4.6% of patients with arterial thrombosis and 6.5% with venous thrombosis presented factor V Leiden (p=NS). Likewise, 8.1% of patients with venous thrombosis and 3.5% of patients with arterial thrombosis had G20210A prothrombin mutation (p=NS). Conclusions: In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population.


Sujets)
Femelle , Humains , Mâle , Adulte d'âge moyen , Proaccélérine/génétique , Polymorphisme génétique , Prothrombine/génétique , Thrombose/génétique , Études cas-témoins , Chili/épidémiologie , Prédisposition génétique à une maladie , Génotype , Mutation , Odds ratio , Réaction de polymérisation en chaîne , Facteurs de risque , Thrombose/épidémiologie , Thrombose veineuse/génétique
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