Factor V I359T: A novel mutation associated with thrombosis and resistance to activated protein C

British Journal of Haematology

Volumn 123, Issue 3, 2003, Pages 496-501

  Mumford, A D ^a   McVey, J H ^b   Morse, C V ^a   Gomez, K ^b   Steen, M ^c   Norstrom, E A ^c   Tuddenham, E G D ^b   Dahlback, B ^c   Bolton Maggs, P H B ^d,e  

^a BRISTOL ROYAL INFIRMARY   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c LUND UNIVERSITY   (Sweden)

^d ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^e MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Activated protein C resistance; Factor V; Mutation; Thrombosis

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GLYCOSYLATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; RISK ASSESSMENT; THROMBOPHILIA; VEIN THROMBOSIS;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; FACTOR V; GENOTYPE; HUMANS; MALE; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; THROMBOSIS;

EID: 0242329725     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04624.x     Document Type: Article

References (21)

1. Antonarakis, S.E. (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Human Mutatation. 11, 1-3.
2. Beauchamp, N.J., Daly, M.E., Hampton, K.K., Cooper, P.C., Preston, F.E. & Peake, I.R. (1994) High prevalence of a mutation in the factor V gene within the UK population: relationship top activated protein C resistance and familial thrombosis. British Journal of Haematology. 88, 219-222.
3. Bertina, R.M., Koeleman, B.P., Koster, T., Rosendaal, F.R., Dirven, R.J., de Ronde, H., der Velden, P.A. & Reitsma, P.H. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369, 64-67.
4. Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Shaw, N., Lane, C.R., Lim, E.P., Kalyanaraman, N., Nemesh, J., Ziaugra, L., Friedland, L., Rolfe, A., Warrington, J., Lipshutz, R., Daley, G.Q. & Lander, E.S. (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genetics, 22, 231-238.
5. Castoldi, E., Kalafatis, M., Lunghi, B., Simioni, P., Ioannou, PA., Petio, M., Girolami, M., Mann, A., K.G. & Bernardi, F. (1998) Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma. Thrombosis and Haemostasis, 80, 403-406.
6. Dahlback, B., Carlsson, M. & Svensson, P.J. (1993) 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. Proceedings of the National Acadamic Sciences USA, 90, 1004-1008.
7. Fernandez, J.A., Hackeng, T.M., Kojima, K. & Griffin, J.H. (1997) The carbohydrate moiety of factor V modulates inactivation by activated protein C. Blood, 89, 4348-4354.
8. Guasch, J.F., Lensen, R.P. & Bertina, R.M. (1997) Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. Thrombosis and Haemostasis, 77, 252-257.
9. Irizarry, K., Kustanovich, V., Li, C., Brown, N., Nelson, S., Wong, W. & Lee, C.J. (2000) Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences. Nature Genetics, 26, 233-236.
10. Jenny, R.J., Pittman, D.D., Toole, J.J., Kriz, R.W., Aldape, R.A., Hewick, R.M., Kaufman, R.J. & Mann, K.G. (1987) Complete cDNA and derived amino acid sequence of human factor V. Proceedings of the National Acadamic Sciences USA, 84, 4846-4850.
11. Jorquera, J.I., Montoro, J.M., Fernandez, M.A., Aznar, J.A. & Aznar, J. (1994) Modified test for activated protein C resistance. Lancet. 344, 1162-1163.
12. Kalafatis, M., Rand, M.D. & Mann, K.G. (1994) The mechanism of inactivation of human factor V and human factor Va by activated protein C. Journal of Biological Chemistry, 269, 31869-31880.
13. Koster, T., Rosendaal, F.R., de Ronde, H., Briet, E., Vandenbroucke, J.P. & Bertina, R.M. (1993) Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 342, 1503-1506.
14. Le, W., Yu, J.D., Lu, L., Tao, R., You, B., Cai, X., Cao, W.J., Huang, W., He, R.M., Zhu, D.L., Chen, Z., & Gong, L.S. (2000) Association of the R485K polymorphism of the factor V gene with poor response to activated protein C and increased risk of coronary artery disease in the Chinese population. Clinical Genetics, 57, 296-303.
15. Morse, C. & Standen, G. (1996) Specificity of 'clotting' methods for factor V Leiden. British Journal of Haematology, 95, 432-436.
16. Norstrom, E., Thorelli, E. & Dahlback, B. (2002) Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood, 100, 524-530.
17. Ohnishi, Y., Tanaka, T., Yamada, R., Suematsu, K., Minami, M., Fujii, K., Hoki, N., Kodama, K., Nagata, S., Hayashi, T., Kinoshita, N., Sato, H., Sato, H., Kuzuya, T., Takeda, H. & Nakamura, Y. (2000) Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population. Human Genetics, 106, 288-292.
18. Rosendaal, F.R., Koster, T., Vandenbroucke, J.P. & Reitsma, P.H. (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood, 85, 1504-1508.
19. Thorelli, E., Kaufman, R.J. & Dahlback, B. (1999) Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood, 93, 2552-2558.
20. van Wijk, R., Nieuwenhuis, K., van den, B.M., Huizinga, E.G., van der Meijden, B.B., Kraaijenhagen, R.J. & van Solinge, W.W. (2001) Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood, 98, 358-367.
21. Zivelin, A., Griffin, J.H., Xu, X., Pabinger, I., Samama, M., Conard, J., Brenner, B., Eldor, A. & Seligsohn, U. (1997) A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood, 89, 397-402.