Abstract
Coagulation factor V plays an important role in Maintaining the hemostatic balance in both the formation of thrombin in the procoagulant pathway as well as in the protein C anticoagulant pathway.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Kane WH, Davie EW. Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. Proc Natl Acad Sci 1986; 83:6800–6804
Jenny RJ, Pittmann DD, Toole JJ, Kritz RW, Aldape RA, Hewick RM, Kaufmann RJ., Mann KG. Complete cDNA and derived amino acid sequence of human Factor V. Proc. Nat Acad Sci 1987; 84: 4846–4850
Wang H, Riddell DC, Guinto ER, MacGillivray RTA, Hamerton JL. Localization of the gene encoding human factor V to chromosome lq21-25. Genomics 1988; 2:324–328
Dahlbäck B, Hansson C, Islam MQ, Szpirer J, Szpirer C, Lundwall A., Levan G. Assignment of gene for coagulation factor V to chromosome 1 in Man and to chromosome 13 in rat. Somat. Cell Molec. Genet 14:509–514: 1988
McAlpine PJ, Coopland G, Guy C, James S, Komarnicki L, MacDonald M, Stranc L, Lewis M, Philipps S, Coghlan G, Kaita H, Cox DW, Guinto ER, MacGillivray R. Mapping the genes for erythrocytic alpha-spectrin l(SPTAl) and coagulation factor V (F5): Cytogenet Cell Genet 1989; 51:1042
Owren P. Parahaemophilia: haemorrhagic diathesis due to absence of a previously unknown clotting factor. Lancet 1947; I: 446–448
Zehnder JL, Hiraki DD, Jones CD, Gross N, Grumet FC. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the FV gene: factor V Stanford. Thomb Haemos. 1999; 82:1097–1099
Lunghi B, Iacovello L, Gemmati D, Di Iasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Bernardi F. Detection od new polymorphic Markers in the factor V gene: Association with factor V levels in plasma. Thromb Haemost 1996; 75: 45–48
De Visser MCH, Guasch JF, Kamphuisen PW, Vos HL, Rosendaal FR, Bertina RM. The HR2 haplotype of factor V: Effects on FV levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis. Thromb Haemost 2000, 83:577–582
Hoekema L, Castoldi E, Tans G, Girelli D, Gemmati D, Bernardi F, Rosing J. Functional properties of factor V and Va encoded by the R2-gene. Thromb. Haemost. 2001; 85:75–81
Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacci E, Mannucci PM. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistant phenotype. Blood 1997; 90:1552–1557
Herrmann FH, Salazar-Sanchez L, Wulff K, Grimm, R, Schuster G, Jimmez-Aru G, Chavez M, Schröder, W. Prevalence of common Mutations and polymorphisms of the genes of FII, FV, FVII, FXIII, MTHFR and ACE — identified as risk factors for venous and arterial thrombosis — in Germany and different ethnic groups (Indians, Blacks) of Costa Rica. In: Scharrer I., Schramm W (eds). 30th Hemophilia Symposion Hamburg 1999, Springer Verlag Berlin, Heidelberg 2001; 241–260
Kostka H, Siegert G, Schwarz T, Gehrisch S, Kuhlisch E, Schellong S, Jaross W. Frequency of polymorphisms in the B domain of factor V gene in APC-resistant patients. Thromb Res 2000; 99:539–547
Castoldi E, Lunghi B, Mingozzi F, Muleo G, Redaelli R, Mariani G, Bernardi F. A Missense Mutation (Y1702C) in coagulation factor V gene is a cause of FV deficiency in the Italian population. Haematologica 2001; 86:629–633
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16:1215
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; 369:64–67
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2003 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Schröder, W., Herrmann, F.H. (2003). Polymorphisms in FV Gene associated with FV Deficiency — First Results. In: Scharrer, I., Schramm, W. (eds) 32nd Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18150-4_34
Download citation
DOI: https://doi.org/10.1007/978-3-642-18150-4_34
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-43884-7
Online ISBN: 978-3-642-18150-4
eBook Packages: Springer Book Archive