Haematologica
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Haematologica, Vol 92, Issue 4, 550-553 doi:10.3324/haematol.10606
Copyright © 2007 by Ferrata Storti Foundation
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Disorders of Hemostasis

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

Mohammad Hashemi Soteh*,, Ian R Peake, Luke Marsden, John Anson, Javier Batlle, Dominique Meyer, Edith Fressinaud, Claudine Mazurier, Jenny Goudemand, Jeroen Eikenboom, Anne Goodeve on behalf of the MCMDM-1VWD Study Group

From the Academic Unit of Hematology, School of Medicine and Biomedical Science, University of Sheffield, UK (HS, IRP, LM, JA, AG); Hospital Teresa Herrera, La Coruna, Spain (JB); INSERM U. 143, Hopital Bicetre, Le Kremlin-Bicetre, France (DM, EF); Laboratoire Français du Fractionnement et des Biotechnologies, Lille, France (CM); Haematology Institute, University Hospital, Lille, France (JG); Department of Hematology, Leiden University Medical Center, Leiden, Netherlands (JE).

Correspondence: Mohammad Hashemi Soteh, Department of Human Genetics, Sari Medical School, Khazar Boulevard, Sari-Mazandaran, Iran. E-mail: hashemisoteh{at}gmail.com

Two versions of conformation sensitive gel electrophoresis, fluorescent (F-CSGE) and manual (M-CSGE) techniques, were compared for mutation analysis of the von Willebrand factor gene. 56 PCRs were used to amplify all 52 exons of the gene in seven type 1 von Willebrand disease cases, plus a healthy control. One hundred and ninety-two samples were analyzed on each F-CSGE gel, compared with 40 on M-CSGE. 125 amplicons revealed bandshifts using F-CSGE, but only 101 by M-CSGE. Five mutations were detected by both techniques. F-CSGE detected 45 different polymorphisms whereas M-CSGE detected only 39. F-CSGE is high-throughput and more sensitive than M-CSGE.

Key words: CSGE, F-CSGE, mutation analysis, von Willebrand’s factor, von Willebrand’s disease.






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