SEARCH:   Advanced

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Chan, W.P. Articles by Liang, R. Search for Related Content PubMed PubMed Citation Articles by Chan, W.P. Articles by Liang, R. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese W.P. Chan, C.K. Lee, Y.L. Kwong, C.K. Lam, and Raymond Liang From the Departments of Medicine and Pathology, University of Hong Kong, Queen Mary Hospital, Hong Kong. We have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis. The DNA sequence variations of exons 7, 10, and 13, where the codons for Arg306, Arg506, and Arg679 are located, respectively, were studied by denaturing gradient gel electrophoresis. The G1691A (Arg 506Gln) mutation in exon 10 was not detectable in any of the 83 subjects. However, a high allelic frequency for the G1628A (Arg 485Lys) substitution was detectable in the same exon. We have also identified a novel DNA sequence mutation (A1090G) in exon 7 that resulted in Arg 306Gly substitution in 2 thrombotic patients and 1 nonthrombotic subject. Fresh blood samples were available from one of them for analysis of activated protein C resistance and the result was negative. Variation of DNA sequence was not found in exon 13 in any of our 83 subjects. The results of this study showed that, although the Arg 506Gln mutation was rarely found in the Hong Kong Chinese population, a different mutation site such as A 1090G in exon 7 of the factor V gene (Arg 306) may be of clinical importance. Blood, Vol. 91 No. 4 (February 15), 1998: pp. 1135-1139 © 1998 by The American Society of Hematology. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Tran, E. Norstrom, and B. Dahlback Effects of Prothrombin on the Individual Activated Protein C-mediated Cleavages of Coagulation Factor Va J. Biol. Chem., March 14, 2008; 283(11): 6648 - 6655. [Abstract] [Full Text] [PDF] B. Dolek, S. Eraslan, S. Eroglu, B. E. Kesim, T. Ulutin, A. Yalciner, Y. R. Laleli, and N. Gozukirmizi Molecular Analysis of Factor V Leiden, Factor V Hong Kong, Factor II G20210A, Methylenetetrahydrofolate Reductase C677T, and A1298C Mutations Related to Turkish Thrombosis Patients Clinical and Applied Thrombosis/Hemostasis, October 1, 2007; 13(4): 435 - 438. [Abstract] [PDF] F. Dawood, R. Mountford, R. Farquharson, and S. Quenby Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR Hum. Reprod., September 1, 2007; 22(9): 2546 - 2553. [Abstract] [Full Text] [PDF] E. A. Norstrom, S. Tran, M. Steen, and B. Dahlback Effects of Factor Xa and Protein S on the Individual Activated Protein C-mediated Cleavages of Coagulation Factor Va J. Biol. Chem., October 20, 2006; 281(42): 31486 - 31494. [Abstract] [Full Text] [PDF] H. Sun The interaction between pathogens and the host coagulation system. Physiology, August 1, 2006; 21: 281 - 288. [Abstract] [Full Text] [PDF] S. Kalkanli, O. Ayyildiz, N. Tiftik, S. Batun, A. Isikdogan, H. Ince, S. Tekes, and E. Muftuoglu Factor V Leiden Mutation in Venous Thrombosis in Southeast Turkey Angiology, March 1, 2006; 57(2): 193 - 196. [Abstract] [PDF] E. Castoldi, J. M. Brugge, G. A. F. Nicolaes, D. Girelli, G. Tans, and J. Rosing Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations Blood, June 1, 2004; 103(11): 4173 - 4179. [Abstract] [Full Text] [PDF] M. Steen, E. A. Norstrom, A.-L. Tholander, P. H. B. Bolton-Maggs, A. Mumford, J. H. McVey, E. G. D. Tuddenham, and B. Dahlback Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis Blood, May 1, 2004; 103(9): 3381 - 3387. [Abstract] [Full Text] [PDF] M. van der Neut Kolfschoten, R. J. Dirven, H. L. Vos, G. Tans, J. Rosing, and R. M. Bertina Factor Va Is Inactivated by Activated Protein C in the Absence of Cleavage Sites at Arg-306, Arg-506, and Arg-679 J. Biol. Chem., February 20, 2004; 279(8): 6567 - 6575. [Abstract] [Full Text] [PDF] D. Scanavini, D. Girelli, B. Lunghi, N. Martinelli, C. Legnani, M. Pinotti, G. Palareti, and F. Bernardi Modulation of Factor V Levels in Plasma by Polymorphisms in the C2 Domain Arterioscler. Thromb. Vasc. Biol., January 1, 2004; 24(1): 200 - 206. [Abstract] [Full Text] [PDF] B. A. Kerlin, S. B. Yan, B. H. Isermann, J. T. Brandt, R. Sood, B. R. Basson, D. E. Joyce, H. Weiler, and J.-F. Dhainaut Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia Blood, November 1, 2003; 102(9): 3085 - 3092. [Abstract] [Full Text] [PDF] K. G. Mann and M. Kalafatis Factor V: a combination of Dr Jekyll and Mr Hyde Blood, January 1, 2003; 101(1): 20 - 30. [Full Text] [PDF] J. M. Soria, L. Almasy, J. C. Souto, A. Buil, E. Martinez-Sanchez, J. Mateo, M. Borrell, W. H. Stone, M. Lathrop, J. Fontcuberta, et al. A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility Blood, January 1, 2003; 101(1): 163 - 167. [Abstract] [Full Text] [PDF] E. Norstrom, E. Thorelli, and B. Dahlback Functional characterization of recombinant FV Hong Kong and FV Cambridge Blood, June 28, 2002; 100(2): 524 - 530. [Abstract] [Full Text] [PDF] G. A.F. Nicolaes and B. Dahlback Factor V and Thrombotic Disease: Description of a Janus-Faced Protein Arterioscler. Thromb. Vasc. Biol., April 1, 2002; 22(4): 530 - 538. [Abstract] [Full Text] [PDF] R. H. Thomas Hypercoagulability Syndromes Arch Intern Med, November 12, 2001; 161(20): 2433 - 2439. [Abstract] [Full Text] [PDF] D. A. Lane and P. J. Grant Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease Blood, March 1, 2000; 95(5): 1517 - 1532. [Full Text] [PDF] F. Rodeghiero and A. Tosetto Activated Protein C Resistance and Factor V Leiden Mutation Are Independent Risk Factors for Venous Thromboembolism Ann Intern Med, April 20, 1999; 130(8): 643 - 650. [Abstract] [Full Text] [PDF] M. C.H. de Visser, F. R. Rosendaal, and R. M. Bertina A Reduced Sensitivity for Activated Protein C in the Absence of Factor V Leiden Increases the Risk of Venous Thrombosis Blood, February 15, 1999; 93(4): 1271 - 1276. [Abstract] [Full Text] [PDF] M A LAFFAN Activated protein C resistance and myocardial infarction Heart, October 1, 1998; 80(4): 319 - 321. [Full Text] R. Liang, C.K. Lee, M.S. Wat, Y.L. Kwong, C.K. Lam, and H.W. Liu Clinical Significance of Arg306 Mutations of Factor V Gene Blood, October 1, 1998; 92(7): 2599 - 2600. [Full Text] [PDF] G. A.F. Nicolaes and B. Dahlback Factor V and Thrombotic Disease: Description of a Janus-Faced Protein Arterioscler. Thromb. Vasc. Biol., April 1, 2002; 22(4): 530 - 538. [Abstract] [Full Text] [PDF]

	Copyright © 1998 by American Society of Hematology         Online ISSN: 1528-0020