Genetic diagnosis of factor V Leiden using heteroduplex technology

Thrombosis and Haemostasis

Volumn 77, Issue 1, 1997, Pages 119-122

  Bowen, D J ^a   Standen, G R ^b   Granville, S ^a   Bowley, S ^a   Wood, N A P ^c   Bidwell, J ^c  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b BRISTOL ROYAL INFIRMARY   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; HETERODUPLEX; RESTRICTION ENDONUCLEASE;

ARTICLE; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; DNA DETERMINATION; GENE MUTATION; GENETIC PROCEDURES; HETEROZYGOTE; HISTORY; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THROMBOSIS;

EID: 0031059049     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1655917     Document Type: Article

References (16)

1. Dahlbäck B. Inherited thrombophilia resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 1995; 85: 607-14.
2. Reitsma PH, Poort SR, Beraardi F, Gandrille S, Long GL, Sala N, Cooper DN. Protein C deficiency: a database of mutations. Thromb Haemost 1993; 69: 77-84.
3. Tuddenham EG, Cooper DN. Protein S, C4b-binding protein and protein Z. In: The molecular genetics of haemostasis and its inherited disorders, Motulsky AG, Borrow M, Harper PS, Scriver C, eds., New York: Oxford University Press 1994; pp 164-74.
4. Lane DA, Ireland H, Olds RJ, Thein SL, Perry DJ, Aiach M. Antithrombin III: a database of mutations. Thromb Haemost 1991; 66: 657-61.
5. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutations in venous thrombosis. Lancet 1994; 343: 1536-8.
6. 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: 64-7.
7. Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston FE, Peake IR. High prevalence of a mutation in the factor V gene within the UK population: relationship to activated protein C resistance and familial thrombosis. Br J Haematol 1994; 88: 219-22.
8. Rabes JP, Trossaert M, Conard J, Samama M, Giraudet P, Boileau C. Single point mutation at Arg506 of factor V associated with APC resistance and venous thromboembolism: Improved detection by PCR-mediated site-directed mutagenesis. Thromb Haemost 1995; 74: 1379-80.
9. Kirschbaum NE, Foster PA. The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance. Thromb Haemost 1995; 74: 874-8.
10. Blasczyk R, Ritter M, Thiede C, Wehling J, Hintz G, Neubauer A, Reiss H. simple and rapid detection of factor V Leiden by allele-specific PCR amplification. Thromb Haemost 1996; 75: 757-9.
11. Bidwell J, Wood N, Clay T, Pursall M, Culpan D, Evans J, Bradley B, Tyfield L, Standen G, Hui K. DNA heteroduplex technology. In: Advances in electrophoresis. Chrambach A, Dunn MJ, Radola BJ, eds. Weinheim: VCH Press 1994; pp 311-51.
12. Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
13. Maniatis T, Fritsch EF, Sambrook J. Analysis of recombinant DNA clones. In: Molecular cloning, a laboratory manual. Maniatis T, ed. New York: Cold Spring Harbour Laboratory 1982; pp 363-73.
14. Budowle B, Allen RC. Discontinuous polyacrylamide gel electrophoresis of DNA fragments. In: Protocols in human molecular genetics, Methods in Molecular Biology 9. Mathew CG, ed. New Jersey: Humana Press 1991; p 128.
15. Wood N, Standen GR, Bowen DJ, Cumming A, Lush C, Lee R, Bidwell J. UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe. Thromb Haemost 1996; 75: 363-7.
16. Wood N, Standen G, Old J, Bidwell J. Optimization and properties of a UHG for genotyping of haemoglobin S and C. Hum Mutat 1995; 5: 166-72.