Screening for the FV:Q506 mutation - Evaluation of thirteen plasma-based methods for their diagnostic efficacy in comparison with DNA analysis

Thrombosis and Haemostasis

Volumn 77, Issue 3, 1997, Pages 436-439

  Tripodi, Armando ^a,c   Negri, Barbara ^a   Bertina, Rogier M ^a,b   Mannucci, Pier Mannuccio ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 5; FIBRIN; VIPER VENOM; ANTICOAGULANT AGENT; DNA; PROTEIN C;

ARTICLE; BLOOD CLOTTING TIME; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; FIBRIN FORMATION; GENE MUTATION; GENETIC DISORDER; HEALTH ECONOMICS; HETEROZYGOTE; HUMAN; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; PLASMA; PRIORITY JOURNAL; SCREENING TEST; VEIN THROMBOSIS; BLOOD CLOTTING TEST; CLINICAL TRIAL; COMPARATIVE STUDY; GENETIC SCREENING; GENETICS; METABOLISM; MULTICENTER STUDY; MUTATION; PARTIAL THROMBOPLASTIN TIME; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

ANTICOAGULANTS; BLOOD COAGULATION TESTS; DNA; FACTOR V; GENETIC SCREENING; HUMANS; MUTATION; PARTIAL THROMBOPLASTIN TIME; PROTEIN C; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 0030615077     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1655984     Document Type: Article

References (22)

1. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by a poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
2. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor response to activated protein C: Leiden thrombophilia study. Lancet 1993; 342: 1503-6.
3. Griffin JH, Evatt BL, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in a majority of thrombophilic patients. Blood 1993; 82: 1989-93.
4. Faioni EM, Franchi F, Asti D, Sacchi E, Bernardi F, Mannucci PM. Resistance to activated protein C in nine thrombophilic families: interference in a protein S functional assay. Thromb Haemost 1993; 70: 1067-71.
5. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
6. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated to activated protein C. Nature 1994; 369: 64-7.
7. Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94: 2521-4.
8. Heeb MJ, Kojima Y, Greengard JS, Griffin JH. Activated protein C resistance: molecular mechanisms based on studies using purified Gln506-Factor V. Blood 1995; 85: 3405-11.
9. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
10. Vandenbroucke JP, Koster T, Briet E, Reitsma PH, Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344: 1453-7.
11. de Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 1994; 72: 880-6.
12. Cadroy Y, Sié P, Boneu B. Frequency of a defective response to activated protein C in patients with history of venous thrombosis. Blood 1994; 83: 2008-9.
13. Tosetto A, Rodeghiero F. Diagnosis of APC resistance in patients on oral anticoagulant therapy. Thromb Haemost 1995; 73: 732-3.
14. Cadroy Y, Sie' P, Alhenc-Gelas M, Aiach M. Evaluation of APC-resistance in the plasma of patients with Q506 mutation of factor V (Factor V Leiden) and treated with oral anticoagulants. Thromb Haemost 1995; 73: 734-5.
15. Rosen S, Johansson K, Lindberg K, Dahlbäck B. Multicenter evaluation of a kit for activated protein C resistance on various coagulation instruments using plasma from healthy individuals. Thromb Haemost 1994; 72: 255-60.
16. Kraus M, Wagner C. Evaluation of APC-sensitivity in normal blood donors using different reagents and instruments. Thromb Res 1994; 76: 231-6.
17. Kraus M, Zander M, Fickenscher K. Coagulation assay with improved specificity to factor V mutants insensitive to activated protein C. Thromb Res 1995; 80: 255-64.
18. Varadi K, Moritz B, Lang H, Bauer KA, Preston EK, Peake I, Rivard GE, Keil B, Schwarz HP. A chromogenic assay for activated protein C resistance. Br J Haematol 1995; 90: 884-91.
19. Exner T, Murray B, Chong BH, Chesterman CN. Improved APC-resistance method based on a Russell's Viper Venom clotting test. Thromb Haemost 1995; 73: 1119.
20. Alhenc-Gelas M, Aillaud MF, Bonvarlet MN, Dupuy G, Juhan-Vague I, Aiach M. Specificity of an assay based on a Factor V-depleted plasma in patients carrying the Arg 506 Gln mutation. Thromb Haemost 1996; 75: 976-7.
21. Dahlbäck B. New molecular insights into genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenetic risk factor for venous thrombosis. Thromb Haemost 1995; 74: 139-48.
22. Dahlbäck B. Are we ready for factor V Leiden screening? Lancet 1996; 347: 1346-7.