Type 2N von Willebrand disease: Rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) - Detection of a novel candidate type 2N mutation: C2810T (R854W)

Thrombosis and Haemostasis

Volumn 80, Issue 1, 1998, Pages 32-36

  Bowen, D J ^a   Standen, G R ^b   Mazurier, C ^c   Gaucher, C ^c   Cumming, A ^d   Keeney, S ^d   Bidwell, J ^e  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b BRISTOL ROYAL INFIRMARY   (United Kingdom)

^c Lab d'Ingenierie Cell et Molec   (France)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HETERODUPLEX; MUTANT PROTEIN; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA POLYMORPHISM; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

EID: 0031949845     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615134     Document Type: Article

References (20)

1. Nishino M, Girma JP, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
2. Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) defect in a patient with factor VIII deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterisation of abnormal vWF/FVIII interaction. Blood 1990; 75: 20-6.
3. Takahashi Y, Kalafatis M, Girma JP, Sewerin K, Andersson LD, Meyer D. Localisation of a factor VIII binding domain on a 34 kilodalton fragment of the N-terminal portion of von Willebrand factor. Blood 1987; 70: 1679.
4. Foster PA, Fulcher CA, Marti T, Titani K, Zimmerman TS. A major factor VIII binding domain resides within the amino terminal 272 amino acid residues of von Willebrand factor. J Biol Chem 1987; 262: 8443.
5. Mazurier C, Meyer D. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease - results of an international survey. Thromb Haemost 1996; 76: 720-4.
6. Kroner PA, Friedman KD, Fahs S, Scott JP, Montgomery RR. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine in von Willebrand factor in a variant form of von Willebrand disease. J Biol Chem 1991; 266: 19146-9.
7. Jorieux S, Tuley EA, Gaucher C, Mazurier C, Sadler JE. The mutation Arg(53)-Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor. Blood 1992; 79: 563-7.
8. Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 502-5.
9. Ginsburg D, Sadler JE. Von Willebrand factor (vWF) database. 1997: http//mmg2.im.med.umich.edu/vWF/.
10. Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E. Recessive inheritance of von Willebrand's disease type 1. Lancet 1993; 341: 982-6.
11. Culpan D, Standen G, Wood N, Mazurier C, Gaucher C, Bidwell J. Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators. Br J Haematol 1997; 96: 464-9.
12. Wood N, Standen GR, Murray EW, Lillicrap D, Holmberg L, Peake IR, Bidwell J. Rapid genotype analysis of type 2B von Willebrand's disease using a universal heteroduplex generator. Br J Haematol 1995; 89: 152-6.
13. Wood N, Bidwell J. Genetic screening and testing by induced heteroduplex formation. Electrophoresis 1996; 17: 247-54.
14. Cacheris PM, Nichols WC, Ginsburg D. Molecular characterisation of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. J Biol Chem 1991; 266: 13499-502.
15. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
16. Bowen DJ, Standen GR, Granville S, Bowley S, Wood NAP, Bidwell J. Genetic diagnosis of factor V Leiden using heteodupelx technology. Thromb Haemost 1997; 77: 119-22.
17. Mancuso DJ, Tuley EA, Westfield LA, Worral NK, Shelton-Inlies BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
18. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia. Science 1985; 230: 1350-4.
19. Maniatis T, Fritsch EF, Sambrook J. Analysis of DNA clones. In: Molecular cloning, a laboratory manual. Maniatis T, ed. New York: Cold Spring Harbour Laboratory 1982; pp. 363-73.
20. 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.