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Screening for the Factor V Leiden Mutation

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Book cover Hemostasis and Thrombosis Protocols

Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 31))

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Abstract

Familial clustering of thrombosis suggests that genetic risk factors are important in the pathogenesis of venous thromboembolism. However, until recently, well defined genetic defects such as antithrombin, protein C and protein S deficiencies accounted for less than 10% of patients with thrombosis.

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References

  1. Dahlback, B., Carlsson, M., and Svensson, P. J. (1993) Familial thrombophilia due to a previously unrecognised mechanism characterised by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc. Natl. Acad. Sci. USA 90, 1004–1008.

    Article  CAS  PubMed  Google Scholar 

  2. Koster, T., Rosendaal, F.R., de Ronde, H., Briet, F., Vandenbroucke, J.P., and Bertina, R.M. (1993) Venous thrombosis due to poor anticoagulant response to activated protein C:Leiden thrombophilia study. Lancet 342, 1503–1506.

    Article  CAS  PubMed  Google Scholar 

  3. Bertina, R. M., Koeleman, B. P. C., Koster, T., Rosendaal, F. R., Dirven, R. J., de Ronde, H., van der Velden, P., A., and Reitsma, P. H. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369, 64–67.

    Article  CAS  PubMed  Google Scholar 

  4. Kalafatis, M., Bertina, R. M., Rand, M. D., and Mann, K. G. (1995) Characterisation of the molecular defect in factor V R506Q. J. Biologic. Chem. 270, 4053–4057.

    Article  CAS  Google Scholar 

  5. Halbmeyer, W-M., Haushofer, A., Schon, R., and Fischer, M. (1994) The prevalence of poor anticoagulant response to activated protein C resistance (APC resistance) among patients suffering from stroke or venous thrombosis and among healthy subjects. Blood Coagul. Fibrinolysis 5, 51–57.

    Article  Google Scholar 

  6. Beauchamp, N. J., Daly, M. E., Hampton, K. K., Cooper, P. C., Preston, F. E., and Peake, I. R. (1994) High prevalence of a mutation in the factor V gene within the UK population: relationship to activated protein C resistance and familial thrombosis. Br. J. Haematol. 88, 219–222.

    Article  CAS  PubMed  Google Scholar 

  7. Rees, D. C., Cox, M., and Clegg, J. B. (1995) World distribution of factor V Leiden. Lancet Oct 28;346,(8983), 1133–1134.

    Article  CAS  PubMed  Google Scholar 

  8. De-Stefano, V. and Leone, G. (1995) Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia. Haematologica 80(4), 344–356.

    CAS  PubMed  Google Scholar 

  9. Nowak-Gottl, U., Koch, H.G., Aschka, I., Kohlhase, B., Vielhaber, H., Kurlemann, G., Oleszcuk-Raschke, K., Kehl, H. K., Jurgens, H., and Schneppenheim, R. (1996) Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br. J. Haematol. Mar;92(4), 992–998.

    Article  CAS  PubMed  Google Scholar 

  10. Dahlback, B. (1995) New molecular insights in to the genetics of thrombophilia. Resistance to activated protein C caused by Arg 506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb. Haemostasis Jul;74(1), 139–148.

    CAS  Google Scholar 

  11. Ridker, P. M., Miletich, J. P., Stampfer, M. J., Goldhaber, S. Z., Lindpaintner, K., and Hennekens, C. H. (1995) Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation Nov 15;92(10), 2800–2802.

    CAS  PubMed  Google Scholar 

  12. Greengard, J. S., Eichinger, S., Griffin, J.H., and Bauer, K. A. (1994) Briefreport: variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg to Gln mutation in the gene of factor V. N. Engl. J. Med. 331, 1559–1562.

    Article  CAS  PubMed  Google Scholar 

  13. Beauchamp, N. J., Daly, M. E., Cooper, P. C., Preston, F. E., and Peake, I. R. (1994) Rapid two-stage PCR for detecting factor V G1691A mutation. Lancet 344, 694–695.

    Article  CAS  PubMed  Google Scholar 

  14. Rabes, J. P., Trossaert, M., Conard, J., Samama, M., Giraudet, P., and Boileau, C. (1995) Single point mutation at Arg 506 of factor V associated with APC resistance and venous thromboembolism: improved detection by PCR-mediated site-directed mutagenesis. Thromb. Haemostasis Nov;74(5), 1379–1380.

    CAS  Google Scholar 

  15. van-de-Locht, L. T., Kuypers, A. W., Verbruggen, B. W., Linssen, P. C., Novakova, I. R., and Mensink, E. J. (1995) Semi-automated detection of the factor V mutation by allele specific amplification and capillary electrophoresis. Thromb. Haemostasis Nov;74(5), 1276–1279.

    Google Scholar 

  16. Gandrille, S., Alhenc-Gelas, M., and Aiach, M. (1995) A rapid screening method for the factor V Arg 506 to Gln mutation. Blood Coagul. Fibrinolysis 6, 245–248.

    Article  CAS  PubMed  Google Scholar 

  17. Bell, G. I., Karman, J. H., and Rutter, W. J. (1981) Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc. Natl. Acad. Sci. USA 78(9), 5759–5763.

    Article  CAS  PubMed  Google Scholar 

  18. Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, J. T., Erlich, H. A., and Arnheim, N. (1985) Enzymatic amplification of the β-globin genomic sequences and restriction site analysis for the diagnosis of sickle cell anaemia. Science 230, 1350–1354.

    Article  CAS  PubMed  Google Scholar 

  19. Cripe, L. D., Moore, K. D., and Kane, W. H. (1992) Structure of the gene for human coagulation factor V. Biochemistry 31, 3777–3785.

    Article  CAS  PubMed  Google Scholar 

  20. Gitschier, J., and Wood, W. I. (1992) Sequence of exon-containing regions of the human factor V gene. Human Mol. Genet. 1, 199,200.

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Haematology, Addenbrooke’s NHS Trust, Cambridge, UK

    Karen P. Brown

Authors
  1. Karen P. Brown
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Editor information

Editors and Affiliations

  1. Royal Free Hospital, London, UK

    David J. Perry  & K. J. Pasi  & 

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© 1999 Humana Press Inc.

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Brown, K.P. (1999). Screening for the Factor V Leiden Mutation. In: Perry, D.J., Pasi, K.J. (eds) Hemostasis and Thrombosis Protocols. Methods in Molecular Medicine™, vol 31. Humana Press. https://doi.org/10.1385/1-59259-248-1:275

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  • DOI: https://doi.org/10.1385/1-59259-248-1:275

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-419-8

  • Online ISBN: 978-1-59259-248-7

  • eBook Packages: Springer Protocols

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