Direct PCR detection of the factor V Leiden mutation: Determination on more than 1 000 clinical samples;Detection directe par PCR de la mutation du facteur V Leiden: Analyse routiniere sur plus de 1 000 echantillons cliniques

Immuno-Analyse et Biologie Specialisee

Volumn 13, Issue 6, 1998, Pages 362-365

  Bali, C ^a   Bathelier, C ^b   Lucotte, G ^b  

^a Laboratoire Claude Lévy   (France)

^b HÔPITAL MAISON BLANCHE   (France)

Author keywords

Factor V Leiden; PCR; Practicality of the assay

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; DNA;

ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VEIN THROMBOSIS;

EID: 0032299924     PISSN: 09232532     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-2532(99)80005-2     Document Type: Article

References (15)

1. Bachelier C, Champenois T, Lucotte G. ARMS test for diagnosis of facror V Leiden murarion and allele frequencies in France. Mol Cell Probes 1998 ; 12 : 121-123
2. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994:369:64-67
3. Bertina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk. Clin Chem 1997 ; 43 : 1678-1683
4. Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992 ; 31 : 3777-3785
5. Dahlbäck B, Carlsson M, Svensson PJ. 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. f'rocNatlAcadSci USA 1993 ; 90 : 1004-1008
6. Dahlbäck B. Resistance to activated protein C, the Arg506Gln murarion in the factor V gene and venous thrombosis : funcrional tests and DNA-based assays, pros and cons. Thromb Haemost 1996 ; 73 : 739-742
7. Freyburger G, Javorschi S, Labrouche S, Bernard P. Proposal for objective evaluation of the performance of various functional APC-resistance tests in genotyped patients. Thromb Haemost 1997 ; 78 : 1360-1365
8. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poot anticoagulant response to activated protein C Leiden. Lancet 1993 ; 342 : 1503-1506
9. Lucotte G, Mercier G. Frequency of factor V Leiden in France. Brit J Haematol 1997;99:241
10. Newton CR, Graham A, Hepinstall. Analysis of any mutation in DNA : the amplification refracrory mutation system. Nucl Acids Res 1989; 17:2503-2509
11. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR. Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparent healthy men. NEnglJMed 1995 ; 332 : 912-917
12. Rosendaal FR, Koster T, Vandenbrouke JP, Reistma PH. High risk of thrombosis in patients homozygous for factor Leiden (activated protein C resistance). SW1995 ; 85 : 1504-1508
13. Simioni P, Prandoni P, Lensing AWA, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A. The risk of recurrent venous thromboembolism in patients with an Arg506Gln mutation in the gene for factor V. NEnglJMed 1994 ; 336 : 399-403
14. Svensson PJ, DahJbäck B. Resistance to activated protein as a basis for venous thrombosis. N EnglJMed 1994 ; 330 : 517-122
15. Trossaërt M, Conard J, Horellou MH, Elalamy I, Samama MM. Le diagnostic biologique de la résistance à la protéine C activée. Rev Franç Lab 1995;279: 19-23