A hemi-nested, allele specific, whole blood PCR assay for the detection of the factor V Leiden mutation

Thrombosis and Haemostasis

Volumn 77, Issue 6, 1997, Pages 1154-1155

  Sinclair, Gary D ^b   Low, Sandra ^b   Poon, Man Chiu ^a  

^a UNIVERSITY OF CALGARY   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; RESTRICTION ENDONUCLEASE;

ACTIVATED PROTEIN C RESISTANCE; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0030814194     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1656129     Document Type: Article

References (13)

1. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proc Nat Acad Sci USA 1993; 90: 1004-8.
2. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Eng J Med 1994; 330: 517-22.
3. Vandenbroucke JP, Koster T, Briët E, Reitsma PH, Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344: 1453-7.
4. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes and management. Blood 1996; 87: 3531-44.
5. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
6. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, deRonde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
7. Greengard JS, Sun X, Xu X, Fernandez JA, Griffin GH, Evatt B. Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 1994; 343: 1362-3.
8. Bellissimo DB, Kirschbaum NE, Foster PA. Improved method for factor V Leiden typing by PCR-SSP. Thromb Haemost 1996; 75: 520.
9. Blascyzk R, Ritter M, Thiede C, Wehling J, Hintz G, Neubauer A, Riess H. Simple and rapid detection of factor V Leiden by allele-specific PCR amplification. Thromb Haemost 1996; 75: 757-9.
10. McCusker J, Dawson MT, Noone D, Gannon F, Smith T. Improved method for direct PCR amplification from whole blood. Nucleic Acids Res 1992; 20: 6747.
11. Rees DC, Cox M, Clegg JB. Detection of the Factor V Leiden mutation using whole blood PCR. Thromb Haemost 1996; 75: 520-1.
12. Zotz RB, Maruhn-Debowski B, Scharf RE. Mutation in the gene coding for coagulation factor V and resistance to activated protein C: detection of the genetic mutation by oligonucleotide ligation assay using a semiautomated system. Thromb Haemost 1996; 76: 53-5.
13. Engel H, Zwang L, van Vliet HHDM, Michiels JJ, Stibbe J, Lindemans J. Phenotyping and genotyping of coagulation factor V Leiden. Thromb Haemost 1996; 75: 267-9.