Optimized factor V gene mutation detection using buffy-coat direct PCR

BioTechniques

Volumn 22, Issue 5, 1997, Pages 837-841

  Pernod, Gilles ^a,b   Mossuz, Pascal ^a   Polack, Benoit ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b HÔPITAL MICHALLON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ARTICLE; BLOOD CLOTTING; DIAGNOSTIC VALUE; GENE MUTATION; HUMAN; POLYMERASE CHAIN REACTION; VEIN THROMBOSIS;

EID: 0030993262     PISSN: 07366205     EISSN: None     Source Type: Journal    
DOI: 10.2144/97225bm10     Document Type: Article

References (15)

1. Ausubel, F.M., R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith and K. Struhl. 1992. Preparation and analysis of data, p.2.2.1-2.2.2. Current Protocols in Molecular Biology. John Wiley & Sons, New York.
2. Balnaves, M.E., S. Nasioulas, H.H.M. Dahl and S. Forrest. 1991. Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions. Nucleic Acids Res. 19:1155.
3. Bertina, R.M., B.P.C. Koeleman, T. Koster, F.R. Rosendaal, R.J. Dirven, H. de Ronde, P.A. van der Veiden and P.H. Reitsma. 1994. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64-67.
4. Cobb, B.D. and J.M. Clarkson. 1994. A simple procedure for optimising the polymerase chain reaction (PCR) using modified Taguchi methods. Nucleic Acids Res. 22:3801-3805.
5. 506 to Gln mutation in the factor V gene, and venous thrombosis. Thromb. Haemost. 73:739-742.
6. Dahlbäck, B., M. Carlsson and P.J. Svensson. 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. Proc. Natl. Acad. Sci. USA 90:1004-1008.
7. Greengard, J.S., X. Sun, X. Xu, J.A. Fernadez, J.H. Griffin and B. Evatt. 1994. Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 343:1362-1363.
8. Koeleman B.P.C., P.H. Reitsma, C.F. Allaart and R.M. Bertina. 1994. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84:1031-1035.
9. Lewin, H.A. and J.A. Stewart-Haynes. 1992. A simple method for DNA extraction from leukocytes for use in PCR. BioTechniques 13:522-524.
10. McHale, R.H., P.M. Stapleton and P.L. Bergquist. 1991. Rapid preparation of blood and tissue samples for polymerase chain reaction. BioTechniques 10:20-23.
11. Mercier, B., C. Gaucher, O. Feugeas and C. Mazurier. 1990. Direct PCR from whole blood, without DNA extraction. Nucleic Acids Res. 18:5908.
12. Nordvåg, B.-Y., G. Husby and M. Raafat El-Gewely. 1992. Direct PCR of washed blood cells. BioTechniques 12:490-493.
13. Svensson, P.J. and B. Dahlbäck. 1994. Resistance to activated protein C as a basis for venous thrombosis. N. Engl. J. Med. 330:517-522.
14. Zöller, B. and B. Dahlbäck. 1994. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 343:1536-1538.
15. Zöller, B., P.J. Svensson, X. He and B. Dahlbäck. 1994. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J. Clin. Invest. 94:2521-2524.