UHG-based mutation screening in type 2B von Willebrand's disease: Detection of a candidate mutation Ser547Phe

Thrombosis and Haemostasis

Volumn 75, Issue 2, 1996, Pages 363-367

  Wood, Nigel ^a   Standen, Graham R ^b   Bowen, Derrick J ^c   Cumming, Anthony ^d   Lush, Christopher ^e   Lee, Richard ^f   Bidwell, Jeffrey ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b BRISTOL ROYAL INFIRMARY   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^e RAIGMORE HOSPITAL   (United Kingdom)

^f ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HETERODUPLEX; METHIONINE; PHENYLALANINE; SERINE; TRYPTOPHAN; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RESTRICTION MAPPING; SCREENING TEST; VON WILLEBRAND DISEASE;

EID: 0029998864     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650275     Document Type: Article

References (16)

1. 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. VCH Press. Weinheim 1994; pp 311-51.
2. Bidwell JL, Clay TM, Wood NAP, Pursall MP, Martin AF, Bradley BA, Hui KM. Rapid HLA - DR-DW and DP matching by PCR fingerprinting and related DNA heteroduplex technologies. In: Handbook of HLA Typing Techniques. Hui KM, Bidwell JL, eds. CRC Press, Boca Raton, FL 1993; pp99-116.
3. Wood N, Tyfield L, Bidwell J. Rapid classification of phenylketonuria genotypes by analysis of hetero-duplexes generated by PCR-amplifiable synthetic DNA Hum Mutat 1993; 2: 131-7.
4. Wood N, Standen G, Hows J, Bradley B, Bidwell J. Diagnosis of sickle cell disease with a universal heteroduplex generator. Lancet 1993; 342: 1519-20.
5. 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.
6. Wood N, Standen GR, Murray EW, Lillicrap D, Holmberg L, Peake IR, Bidwell J. Rapid genotype analysis in type 2B von Willebrand's disease using a universal heteroduplex generator. Br J Haematol 1995; 89: 152-6.
7. Ginsburg D, Evan Sadler J. Von Willebrand disease: a database of point mutations, insertions and deletions. Thromb Haemost 1993; 69: 177-84.
8. Langdell RD, Wagner RH, Brinkhous KM. Effect of anti-hemophilic factor on one stage clotting tests A presumptive test for hemophilia and a simple one stage anti-hemophilic factor assay procedure. J Clin Lab Med 1953; 41: 637-42.
9. Laurell CB. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochemistry 1966; 15: 45-52.
10. Furlong RA, Chesham J, Peake IR. The combined use of monoclonal antibody-based enzyme-linked immunoabsorbent assays (ELISA) for factor VIII antigens (VIII:Ag) and von Willebrand factor antigen (vWF:Ag) for the detection of carriers of haemophilia A. Clin Lab Haematol 1988; 10: 295-305.
11. Zuzel M, Nilsson IM, Aberg M. A method for measuring plasma ristocetin cofactor activity. Normal distribution and stability during storage. Thromb Res 1978; 12: 745-54.
12. Enayat MS, Hill FGH. Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique. J Clin Path 1983, 36: 915-9.
13. Raines G, Aumann H, Sykes S, Street A. Multimeric analysis of von Willebrand Factor by molecular sieving electrophoresis in sodium dodecyl sulphate agarose gel. Thromb Res 1990; 60: 201-12.
14. Fedirici AB, Stabile F, Canciani S, Miyata JL, Ware JL. New mutation Ile(546)→Val in a family with type IIB von Willebrand disease characterized by spontaneous platelet aggregation, thrombocytopenia and normal levels of ristocetin cofactor. Thromb Haemost 1995; 73: 1170. Abstract 1033.
15. Rabinowitz I, Randi AM, Shindler KS, Tuley EA, Rustagi PK, Evan Sadler J. Type IIB mutation His-505→Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein 1b. J Biol Chem 1993; 269: 20497-501.
16. Hilbert L, Gaucher C, de Romeuf C, Horellou M-H, Vink T, Mazurier C. Leu 697→Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood 1994; 83: 1542-50.