Abstract
It has been recognized from the early 1800s that activation of coagulation can be initiated by the exposure of subendothelial layers (tissue factor), but it was the 1940s before factor VII (FVII) was included in this event (1,2). The discovery of hemophilia A and B supported the hypothesis that the intrinsic pathway incorporating factors VIII and IX was more important in hemostasis (3,4). More recently the extrinsic pathway (incorporating FVII) has been the focus of attention by activating both arms of the coagulation cascade via its action upon factors IX and X (5).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Thakrah, C. T. (1819) An inquiry into the nature and properties of the blood. Cox, London.
Alexander, B., Goldstein, R., Landmehr, G., et al. (1951) Congenital SPCA deficiency: a hitherto unrecognised coagulation defect with haemorrhage rectified by serum and serum fractions. J. Clin. Invest. 30, 596–608.
Macfarlane, R. G. (1964) An enzyme cascade in the blood clotting mechanism, and its’ function as a biochemical amplifier. Nature 202, 498–499.
Davie, E. W. and Ratnoff, O. D. (1964) Waterfall sequence for intrinsic blood clotting. Science 145, 1310–1312.
Broze, G. J. Jr, Girard, T. J., and Novotny, W. F. (1990) Regulation of coagulation by a multivalent Kunitz-type inhibitor. Biochemistry 29, 7539–7546.
O’Hara, P. J., Grant, F. J., Halderman, B. A., Gray, C. L., Insley, M. Y., Hagen, F. S., and Murray, M. J. (1987) Nucleotide sequence of the gene coding for human Factor VII, a vitamin-K dependent protein participating in blood coagulation. Proc. Natl. Acad. Sci. USA 84, 5158–5162.
de Grouchy, J., Zautzenberg, M.D, Turleau, C., Beguin, S., and Chauin-colin, F. (1984) Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8. Human Genetics 66, 230–233.
Miao, C.H., Leytus, S. P., Chung, D. W., and Davie, E. W. (1992) Liver specific expression of the gene coding for human factor X, a blood coagulation factor. J. Biol. Chem. 267, 7395–7401.
Furie, B. and Furie, B. C. (1990) Molecular bases of vitamin-K dependent γ-carboxylation. Blood 75, 1753–1762.
Neurath, H. (1984) Evaluation of proteolytic enzymes. Science 224, 350–357.
Marakava, M., O’Kamura, T., Kamura, T., Kuroiwa, M., Harada, M., and Niho, Y. (1994) Analysis of the partial nucleotide sequences and deduced primary structures of the protease domains of mammalian blood coagulation factors VII and X. Eur. J. Haematol. 52, 162–168.
Regni, M. V., Lewis, J. H., Spero, J. A., and Hasiba, U. (1981) Factor VII deficiency. Am. J. Haematol. 10, 79.
Tripplett, D. A., Brandt, J. T., McGann Batard, M.A., Shaeffer Dixon, J. L., and Fair, D. S. (1985) Heterogeneity defined by combined functional and immunochemical analysis. Blood 66, 1284.
Berkner, K., Busby, S., Davie, E., et al. (1986) Isolation and expression of cDNA encoding human factor VII. Cold Spring Harb. Symp. Quant. Biol. 51, 531–541.
Broze, J. Jr. (1982) Binding of human factor VII and VIIa to moncytes. J. Clin. Invest. 70, 526–535.
Kumar, A., Blumenthal, D. K., and Fair, D. S. (1991) Identification of molecular sites on factor VII which mediate its assembly and function in the extrinsic pathway activation complex. J. Biol. Chem. 226, 915–921.
Green, F., Kelleher, C., Wilkes, H., Temple, A., Meade, T., and Humpries, S. (1991) A common genetic polymorphism associated with lower coagulation factor VII in healthy individuals. Arterioscler. Thromb. 11, 540–546.
Tuddenham, E. G. D, Pemberton, S., and Cooper, D. N. (1995) Inherited factor VII deficiency: genetics and molecular pathology. Thromb. Haemostasis 74(1), 313–321.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1999 Humana Press Inc.
About this protocol
Cite this protocol
Baker, P.M. (1999). Identification of Mutations in the Human Factor VII Gene. In: Perry, D.J., Pasi, K.J. (eds) Hemostasis and Thrombosis Protocols. Methods in Molecular Medicine™, vol 31. Humana Press. https://doi.org/10.1385/1-59259-248-1:201
Download citation
DOI: https://doi.org/10.1385/1-59259-248-1:201
Publisher Name: Humana Press
Print ISBN: 978-0-89603-419-8
Online ISBN: 978-1-59259-248-7
eBook Packages: Springer Protocols