Prevalence of Three Prothrombotic Polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C 677T in Argentina

Screening in selected but still wide populations such as women with recurrent fetal loss, placental insufficiency, pre-eclampsia, or needing oral contraception, or programmed high-risk surgery in both sexes, is still controversial. Knowledge of the prevalence of these polymorphisms in the general po...

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Autor principal: Genoud, V.
Otros Autores: Castañon, M., Annichino-Bizzacchi, J., Korin, J., Kordich, L.
Formato: Capítulo de libro
Lenguaje:Inglés
Publicado: 2000
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Acceso en línea:Registro en Scopus
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024 7 |2 scopus  |a 2-s2.0-0034324872 
024 7 |2 cas  |a 5,10 methylenetetrahydrofolate reductase (FADH2), 9028-69-7; homocysteine, 454-28-4, 6027-13-0; protein C, 60202-16-6; prothrombin, 9001-26-7; Factor V, 9001-24-5; Methylenetetrahydrofolate Reductase (NADPH2), 1.5.1.20; Oxidoreductases Acting on CH-NH Group Donors, 1.5.-; Prothrombin, 9001-26-7 
040 |a Scopus  |b spa  |c AR-BaUEN  |d AR-BaUEN 
030 |a THBRA 
100 1 |a Genoud, V. 
245 1 0 |a Prevalence of Three Prothrombotic Polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C 677T in Argentina 
260 |c 2000 
270 1 0 |m Kordich, L.; Facultad de Ciencias Exactas y Nat., UBA, Dpto. Quimica Biologica, Ciudad Universitaria, Buenos Aires, Argentina; email: lht@qb.fcen.uba.ar 
506 |2 openaire  |e Política editorial 
504 |a Salzman, E.W., Hirsch, J., The epidemiology, pathogenesis and natural history of venous thrombosis (1994), pp. 1275-1296. , Colman RW, Hirsh J, Marder VJ, Salzman EW, editors. Hemostasis and Thrombosis: Basic Principles and Clinical Practice, 3rd ed. Philadelphia: Lippincott; De Stefano, V., Finazzi, G., Mannucci, P.M., Inherited Thrombophilia: Pathogenesis, Clinical Syndromes, and Management (1996) Blood, 87, pp. 3531-3544 
504 |a Andersen, B.S., Olsen, J., Oral Contraception and Factor V Leiden Mutation in Relation to Localization of Deep Vein Thrombosis (1998) Thrombo Res, 90, pp. 191-194 
504 |a Rosendaal, F.R., Koster, T., Vandenbroucke, J.P., High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) (1995) Blood, 85, pp. 1504-1508 
504 |a Ridker, P.M., Hennekens, C.H., Lindpaintner, K., Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke and venous thrombosis in apparently healthy men (1995) N Engl J Med, 332, pp. 912-917 
504 |a Bertina, R.M., Reitsma, P.H., Rosendaal, F.R., Resistance to activated Protein C and factor V Leiden as risk factor for venous thrombosis (1995) Thromb Haemost, 74, pp. 449-453 
504 |a Dahlback, B., Resistance to activated protein C caused by the factor V R506Q mutation is a common risk factor for venous thrombosis (1997) Thromb Haemost, 78, pp. 483-488 
504 |a De Stefano, V., Chiusolo, P., Paciaroni, K., Epidemiology of Factor V Leiden: Clinical implications (1998) Sem in Thromb Hemostas, 24, pp. 367-379 
504 |a Poort, S.R., Rosendaal, F.R., Reitsma, P.H., Bertina, R.M., A common genetic variation in the 3' untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis (1996) Blood, 88, pp. 3698-3703 
504 |a Ridker, P.M., Hennekens, C.H., Miletich, J.P., G20210 A mutation in prothrombin gene and risk of myocardial infarction, stroke and venous thrombosis ia a large cohort of US men (1999) Circulation, 99, pp. 999-1004 
504 |a Raoul, M., Mathonnet, F., Peltier, J.Y., Collet, C., Boucly, C., Van Amerongen, G., Mathieu, B., Mazancourt, P., An Improved Method for the Detection of the G20210A Transition in the Prothrombin Gene (1997) Thromb Res, 88, pp. 441-443 
504 |a De Stefano, V., Chiusolo, P., Paciaroni, K., Prevalence of the 677C to T mutation in the methylenetetrahydrofolate reductase gene in Italian patients with venous thrombo tic disease (1998) Thromb Haemost, 79, pp. 686-687 
504 |a Kluijtmans, L.A., Den Heijer, M., Reitsma, P.H., Heil, S.G., Blom, H.J., Rosendaal, F.R., Thermolabile methylentetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis (1998) Thromb Haemost, 79, pp. 254-258 
504 |a Margaglione, M., D'Andrea, G., D'Addedda, M., Giuliani, N., Cappucci, G., Iannaccone, L., Vecchione, G., Di Minno, G., The methylenetetrahydrofolate reductase T677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation (1998) Thromb Haemost, 79, pp. 907-911 
504 |a Akar, N., Akar, E., Misirlioglu, M., Avcu, F., Yalcin, A., Cin, S., Search for Genetic Factors Favoring Thrombosis in Turkish Population (1998) Thromb Res, 92, pp. 79-82 
504 |a Hepner, M., Roldan, A., Pieroni, G., Frontroth, J.P., Serviddio, R.M., Feliu Torrres, A., Sciuccati, G., Bonduel, M., Factor V Leiden Mutation in the Argentinian Population (1999) Thromb Haemost, 81, p. 989 
504 |a Lahiri, D.K., Nurnberger, J.I., A rapid non-enzimatic method for the preparation of HMW DNA from blood for RFLP studies (1991) Nucleic Acids Research, 19 (19), p. 5444 
504 |a Bertina, R.M., Koeleman, B.P.C., Koster, T., Mutation in blood coagulation factor V associated with resistance to activated protein C (1994) Nature, 369, pp. 64-67 
504 |a Froost, P., Blom, H.J., Milos, R., GoyeTe, P., Shepard, C.A., MaThews, R.G., Boers, G.J.H., Rozen, R., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase (1995) Nature Genet, 10, pp. 111-113 
504 |a Rodeghiero, F., ToseTo, A., The epidemiology of inherited thrombophilia: The VITA project (1997) Thromb Haemostas, 78, pp. 636-640 
504 |a Gomez Rioja, R., Cuesta, M., Garcia Munoz, M., Prevalence of the FV Leiden mutation in the Spanish population (1997) Thromb Haemostas, 77 (S), p. 224. , Abst 
504 |a Camacho Vanegas, O., Giusti, B., Restrepo Fernandez, C.M., Abbate, R., Pepe, G., Frequency of Factor V (FV) Leiden and C677T Methylenetetrahydrofolate Reductase (MTHFR) mutations in Colombians (1998) Thromb Haemost, 79, pp. 883-884 
504 |a Salomon, O., Steinberg, D.M., Zivelin, A., Gitel, S., Dardik, R., Rosenberg, N., Berliner, S., Seligsohn, U., Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: Prevalence and risk assessment (1999) Arterioscler Thromb Vasc Biol, 19, pp. 511-518 
520 3 |a Screening in selected but still wide populations such as women with recurrent fetal loss, placental insufficiency, pre-eclampsia, or needing oral contraception, or programmed high-risk surgery in both sexes, is still controversial. Knowledge of the prevalence of these polymorphisms in the general population is useful in order to take desicions that could considerably increase the burden to health resources, even in developed countries.  |l eng 
593 |a Facultad de Ciencias Exactas y Naturales, Dpto. Química Biológica, Universidad de Buenos Aires, Buenos Aires, Brazil 
593 |a Hematology-Hemotherapy Center, State University of Campinas, Campinas SP, Brazil 
593 |a Facultad de Ciencias Exactas y Naturales, UBA, Laboratorio de Hemostasia y Trombosis, Pabellón II, 4 Piso, Argentina 
690 1 0 |a FACTOR V LEIDEN 
690 1 0 |a MTHFR 
690 1 0 |a PREVALENCE 
690 1 0 |a PROTHROMBIN 20210 
690 1 0 |a THROMBOPHILIA 
690 1 0 |a 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2) 
690 1 0 |a BLOOD CLOTTING FACTOR 5 LEIDEN 
690 1 0 |a DNA FRAGMENT 
690 1 0 |a HOMOCYSTEINE 
690 1 0 |a ORAL CONTRACEPTIVE AGENT 
690 1 0 |a PHOSPHOLIPID ANTIBODY 
690 1 0 |a PROTEIN C 
690 1 0 |a PROTEIN S 
690 1 0 |a PROTHROMBIN 
690 1 0 |a ACTIVATED PROTEIN C RESISTANCE 
690 1 0 |a ADULT 
690 1 0 |a AGED 
690 1 0 |a ARTICLE 
690 1 0 |a BLOOD DONOR 
690 1 0 |a CONTROLLED STUDY 
690 1 0 |a DEEP VEIN THROMBOSIS 
690 1 0 |a DNA POLYMORPHISM 
690 1 0 |a GENE MUTATION 
690 1 0 |a GENETIC DISORDER 
690 1 0 |a GENETIC VARIABILITY 
690 1 0 |a HETEROZYGOSITY 
690 1 0 |a HOMOZYGOSITY 
690 1 0 |a HUMAN 
690 1 0 |a HUMAN TISSUE 
690 1 0 |a LUNG EMBOLISM 
690 1 0 |a PREVALENCE 
690 1 0 |a PRIORITY JOURNAL 
690 1 0 |a RISK FACTOR 
690 1 0 |a THROMBOEMBOLISM 
690 1 0 |a THROMBOPHILIA 
690 1 0 |a ADULT 
690 1 0 |a AGED 
690 1 0 |a BRAZIL 
690 1 0 |a FACTOR V 
690 1 0 |a GENETIC SCREENING 
690 1 0 |a HETEROZYGOTE 
690 1 0 |a HOMOZYGOTE 
690 1 0 |a HUMANS 
690 1 0 |a METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2) 
690 1 0 |a MIDDLE AGED 
690 1 0 |a OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS 
690 1 0 |a POINT MUTATION 
690 1 0 |a POLYMORPHISM, GENETIC 
690 1 0 |a PREVALENCE 
690 1 0 |a PROTHROMBIN 
690 1 0 |a RISK FACTORS 
690 1 0 |a THROMBOPHILIA 
651 4 |a ARGENTINA 
700 1 |a Castañon, M. 
700 1 |a Annichino-Bizzacchi, J. 
700 1 |a Korin, J. 
700 1 |a Kordich, L. 
773 0 |d 2000  |g v. 100  |h pp. 127-131  |k n. 3  |p Thromb. Res.  |x 00493848  |t Thrombosis Research 
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856 4 0 |u https://hdl.handle.net/20.500.12110/paper_00493848_v100_n3_p127_Genoud  |y Handle 
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