Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: A comparison of fluorescent and manual techniques

Haematologica

Volumn 92, Issue 4, 2007, Pages 550-553

  Soteh, Mohammad Hashemi ^a,g,h   Peake, Ian R ^a   Marsden, Luke ^a   Anson, John ^a   Batlle, Javier ^b   Meyer, Dominique ^c   Fressinaud, Edith ^c   Mazurier, Claudine ^d   Goudemand, Jenny ^e   Eikenboom, Jeroen ^f   Goodeve, Anne ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b Hospital Teresa Herrera   (Spain)

^c BICÊTRE HOSPITAL   (France)

^d Laboratoire Francais du Fractionnement et des Biotechnologies   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h Medical School   (Iran)

Author keywords

CSGE; F CSGE; Mutation analysis; Von Willebrand's disease; Von Willebrand's factor

Indexed keywords

VON WILLEBRAND FACTOR; DNA; FLUORESCENT DYE;

ARTICLE; CONFORMATION; CONTROLLED STUDY; EXON; FLUORESCENCE; GEL ELECTROPHORESIS; HUMAN; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; VON WILLEBRAND DISEASE; BLOOD; CHEMISTRY; COMPARATIVE STUDY; EVALUATION; FLUOROMETRY; GENETICS; HETERODUPLEX ANALYSIS; METHODOLOGY; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PSEUDOGENE; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FLUORESCENT DYES; FLUOROMETRY; HETERODUPLEX ANALYSIS; HUMANS; NUCLEIC ACID CONFORMATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; SENSITIVITY AND SPECIFICITY; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 34547684843     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10606     Document Type: Article

References (20)

1. Sadler JE, Mannucci PM, Berntorp E, Bochkov N, Boulyjenkov V, Ginsburg D, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000;84:160-74.
2. Castaman G, Federici AB, Rodeghiero F, Mannucci PM. von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003;88:94-108.
3. Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989;264:19514-27.
4. Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 1991;30:253-69.
5. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 1998; 95:1681-5.
6. Markoff A, Sormbroen H, Bogdanova N, Preisler-Adams S, Ganev V, Dworniczak B, et al. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols. Eur J Hum Genet 1998;6:145-50.
7. Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, et al. Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 2001;38:824-33.
8. Ganguly T, Dhulipala R, Godmilow L, Ganguly A. High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. Hum Genet 1998;102:549-56.
9. Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006;4:766-73.
10. Eikenboom J, Van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost 2006;4:774-82.
11. Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, et al. Phenotype and genotype of a cohort of families historically diagnosed with Type 1 von Willebrand Disease in the European study, molecular and clinical markers for the diagnosis and management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007;109:112-21.
12. Zhang ZP, Falk G, Blomback M, Egberg N, Anvret M. Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. Hum Mol Genet 1992;1:61-2.
13. Zhang ZP, Blomback M, Nyman D, Anvret M. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands. Proc Natl Acad Sci USA 1993;90:7937-40.
14. Allen S, Abuzenadah AM, Blagg JL, Hinks J, Nesbitt IM, Goodeve AC, et al. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000;95:2000-7.
15. Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998;79:723-6.
16. Ganguly A, Williams C. Detection of mutations in multi-exon genes: comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations. Hum Mutat 1997;9:339-43.
17. Spitzer E, Abbaszadegan MR, Schmidt F, Hauser A, Buwitt U, Lauter FR, et al. Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. Int J Cancer 2000;85:474-81.
18. Blesa JR, Hernandez-Yago J. Adaptation of conformation-sensitive gel electrophoresis to an ALF express DNA sequencer to screen BRCA1 mutations. Biotechniques 2000;28:1019-25.
19. Ganguly A. An update on conformation sensitive gel electrophoresis. Hum Mutat 2002 ;19:334-42.
20. Rozycka M, Collins N, Stratton MR, Wooster R. Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis. Genomics 2000;70:34-40.