Rapid detection of factor V Leiden (FVQ506) by non-radioactive single strand conformation polymorphism (SSCP)

Sangre

Volumn 41, Issue 5, 1996, Pages 379-381

  Arruda, Valder R ^a   Von Zuben, Paula M ^a   Annichino Bizzachi, Joyce M ^a   Costa, Fernando F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; ENDODEOXYRIBONUCLEASE MNLI; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; DISEASE PREDISPOSITION; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; SILVER STAINING; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOEMBOLISM;

DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; FACTOR V; FACTOR V DEFICIENCY; HUMANS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SILVER STAINING; THROMBOEMBOLISM;

EID: 0030254633     PISSN: 00364355     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Anderson FA, Wheeler B, Goldberg RJ, Hosmer DW, Forcier A, Patwardhan NA. Physician practices in the prevention of venous thromboembolism. Ann Int Med 1993; 115: 591-595.
2. Colman RW, Hirsh J, Marder VJ, Salzman EW. Hemostasis and Thrombosis. Basic principles and clinical practice, 3rd edn Lippincott, Philadelphia, 1994.
3. Bauker KA, Rosenberg RD. The hypercoagulable state. In: Ratnoff OD & Forbes CD ed. Disorders of hemostasis 2nd edn. Saunders, Philadelphia, 1991:267-291.
4. Dahlback 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. Proc Natl Acad Sci USA 1993; 90: 1004-1008.
5. Koster T, Rosendaal FR, Ronde H, Briét E, Vandenbroucke J, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-1506.
6. Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-1993.
7. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994, 330: 517-522.
8. Bertina RM, Koelemann BPC, Koster T, Rosendaal FR, Dirven RJ, Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
9. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-2770.
10. Grompe M. The rapid detection of unknown mutation in nucleic acids Nature Genetics 1993; 5: 111-117.
11. Sugano K, Kyogoku A, Fukayama N, Ohkura H, Shimosato Y, Sekiya T, Hayashi K Rapid and simple detection of c-Ki-ras2 gene codon 12 mutations by nonradioisotopic single-strand conformation polymorphism analysis. Lab Invest 1993, 68: 361-366.
12. Arruda VR, Annichini-Bizzacchi JM, Costa FF, Reitsma PH. Factor V Leiden (FVQ506) is common in Brazilian population. Am J Hematol 1995; 39. 242-243.
13. Millar SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cell. Nucleic Acids Res 1988; 16: 1215.
14. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higushi R, Horn GT, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.Science 1983; 239: 487-491.
15. Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, et al. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma Thromb Haemostas 1996; 75. 45-48.
16. Engel H, Zwang L, vanHiet HHDM, Michiels JJ, Stibbe J, Lindemans J. Phenotyping and genotyping of coagulation factor V Leiden. Thromb Haemostas 1996, 75: 267-269.