Use of the direct RNA amplification technique NASBA to detect factor V Leiden, a point mutation associated with APC resistance

Blood Coagulation and Fibrinolysis

Volumn 7, Issue 6, 1996, Pages 659-663

  Reitsma, P H ^a,c   Van Der Velden, P A ^a   Vogels, E ^a   Van Strijp, D ^b   Tacken, N ^b   Adriaansen, H ^b   Van Gemen, B ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Organon Teknika   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

APC resistance; ELGA; factor V Leiden; mutation detection; NASBA

Indexed keywords

ACTIVATED PROTEIN C; RNA;

ARTICLE; BLOOD PROTEIN DISORDER; GENE AMPLIFICATION; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RNA SYNTHESIS; VEIN THROMBOSIS;

EID: 0029798993     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199609000-00012     Document Type: Article

References (19)

1. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
2. Greengard JS, Sun X, Xu X, Fernandez JA, Griffin JH, Evatt B. Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 1994; 343: 1361-1362.
3. Voorberg J, Roesle J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point mutation at Arg506 of factor V. Lancet 1994; 343: 1353-1356.
4. 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: 2521-2524.
5. Reitsma PH. Protein C deficiency: summary of the 1995 database update. Nucleic Acids Res 1996; 24: 157-159.
6. Reitsma PH, Ploos Van Amstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492.
7. Gandrille S, Borgel D, Eschwege-Gufflet V, et al. Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 1995; 85: 130-138.
8. Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995; 73: 87-93.
9. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-1008.
10. 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: 880-886.
11. Girolami A, Simioni P, Scarano L. Evaluation of activated protein C resistance in stored plasma. Lancet 1994; 343: 1288-1289.
12. Matsuda J, Gohchi K, Tsukamoto M, Gotoh M, Saitoh N, Kawasugi K. Resistance to activated protein C in systemic lupus erythematosus patients with antiphospholipid antibodies. Eur J Haematol 1994; 53: 188-189.
13. Le DT, Griffin JH, Greengard JS, Mujumdar V, Rapaport SI. Use of a generally applicable tissue factor-dependent factor V assay to detect activated protein C-resistant factor Va in patients receiving warfarin and in patients with a lupus anticoagulant. Blood 1995; 85: 1704-1711.
14. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning - a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 1989.
15. Boom R, Sol CJA, Salimans MMM, Jansen CL, Wertheim-van Dillen PME, van der Noorda J. Rapid and simple method for purification of nucleic acids. J Clin Microbiol 1990; 28: 495-503.
16. Kievits T, van Gemen B, van Strijp D, et al. NASBA isothermal enzymatic in vitro nucleic acid amplification optimized for the diagnosis of HIV-1 infection. J Virol Meth 1991; 35: 635-641.
17. van der Vliet GME, Schukkink RAF, van Gemen B, Schepers P, Klatser PR. Nucleic acid sequence-based amplification (NASBA) for the identification of mycobacteria. J Gen Microbiol 1993; 139: 2423-2429.
18. Compton J. Nucleic acid sequence-based amplification. Nature 1991; 350: 91-92.
19. Shen NLL, Fan S-T, Pyati J, Graff R, LaPolla RJ, Edgington TS. The serine protease cofactor factor V is synthesized by lymphocytes. J Immunol 1993; 150: 2992-3001.