The Prothrombin 20210 A Allele Is Frequently Coinherited in Young Carriers of the Factor V Arg 506 to Gln Mutation With Venous Thrombophilia
نویسندگان
چکیده
1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994 2. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88:3698, 1996 3. Rees DC, Cox M, Clegg JB: Detection of the factor V Leiden mutation using whole blood PCR. Thromb Haemost 75:520, 1995 4. Corral J, Iniesta JA, Gonzáles-Conjero R, Vicente V: Detection of factor V Leiden from a drop of blood. Thromb Haemost 76:735, 1996 5. Ripoll L, Paulin D, Thomas S, Drouet O: Multiplex PCRmediated site-directed mutagenesis for one-step determination of factor V Leiden and G20210A transition of the prothrombin gene. Thromb Haemost 90:960, 1997
منابع مشابه
The prothrombin 20210 A allele is frequently coinherited in young carriers of the factor V Arg 506 to Gln mutation with venous thrombophilia.
1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994 2. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin le...
متن کاملSimultaneous detection of FV Q506 and prothrombin 20210 A variation by allele-specific PCR.
BACKGROUND AND OBJECTIVE Factor V Leiden is the most important risk factor for hereditary thromboembolism, whereas the mutation in the 3'-untranslated region of the prothrombin gene seems to be only a mild risk factor for thrombotic events. On the other hand the factor V mutation (Arg 506) is frequently coinherited with the prothrombin 3'-untranslated region G20210A variant and there is increas...
متن کاملFactor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
متن کاملHomozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.
BACKGROUND AND OBJECTIVE A new genetic risk factor for venous thromboembolism has recently been described which involves a G to A transition at position 20210 in the 3' untranslated region of the prothrombin gene. To date, only a few homozygotes for this mutation have been reported and in most of cases, they suffered from thrombotic disease. Here, we describe a pedigree including both heterozyg...
متن کاملFactor V Leiden and other coagulation factor mutations affecting thrombotic risk.
Five genetic defects have been established as risk factors for venous thrombosis. Three are protein C, protein S, and antithrombin deficiencies, defects in the anticoagulant pathways of blood coagulation. Together they can be found in approximately 15% of families with inherited thrombophilia. Their laboratory diagnosis is hampered by the large genetic heterogeneity of these defects. The other ...
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