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Thromb Haemost 1993; 69(02): 185-191
DOI: 10.1055/s-0038-1651577
Original Article
Von Willebrand Disease
Schattauer GmbH Stuttgart

A Database of Polymorphisms in the von Willebrand Factor Gene and Pseudogene

For the Consortium on von Willebrand Factor Mutations and Polymorphisms [1], and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
J Evan Sadler
*   The Howard Hughes Medical Institute, The Jewish Hospital of St. Louis, Departments of Medicine, and of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO
,
David Ginsburg
**   Howard Hughes Medical Institute, Departments of Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA
› Institutsangaben
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Publikationsverlauf

Received 27. April 1992

Accepted after revision 07. Oktober 1992

Publikationsdatum:
03. Juli 2018 (online)

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Summary

Nucleotide sequence polymorphisms in the von Willebrand factor (vWF) gene are useful for genetic studies in von Willebrand disease (vWD). This database describes 33 known vWF polymorphisms distributed throughout the vWF gene. DNA sequence information is available for 21 of these sites. The most informative system is a tetranucleotide repeat polymorphism in vWF intron 40. Sixteen of these polymorphisms are within vWF exons, and approximately half of them also alter the encoded amino acid sequence. Many occur close to mutations that cause vWD. The high prevalence of vWF polymorphisms must be considered in the analysis of candidate vWD mutations. In addition to the vWF gene on chromosome 12, there is a partial unprocessed vWF pseudogene on chromosome 22 that corresponds to vWF exons 23 to 34. Three polymorphisms have been assigned to the vWF pseudogene. Because the vWF gene and pseudogene have diverged only ∼3.1% in DNA sequence, correct assignment of polymorphisms to either locus can be difficult in the region of homology. This problem has been solved in some cases by comparison of the published sequences and predicted restriction maps for the gene and pseudogene.

Members of Consortium on von Willebrand Factor Mutations and Polymorphisms. Asterisks denote Steering Committee Members: Takeshi Abe, Tokyo University, Japan; Maria Anvret, Karolinska Hospital, Sweden; Javier Batlle, Hospital Teresa Herrera, Spain; Francesco Bernardi, Universita di Ferrara, Italy; David Bonthron, MRC Human Genetics Unit, Scotland; Derrick Bowen, University of Wales, Wales; Jeroen C. J. Eikenboom, University Hospital Leiden, The Netherlands; Bruce Ewenstein, Brigham and Women’s Hospital, USA; Gunnar Falk, Karolinksa Hospital, Sweden; David Ginsburg*, University of Michigan, USA; Harvey Grainick, National Institutes of Health, USA; Hiroshi Inaba*, Tokyo Medical College, Japan; Aida Inbal*, Beilinson Medical Center, Israel; David Lillicrap*, Queen’s University, Canada; David Mancuso, The Blood Center of Southeastern Wisconsin, USA; Claudine Mazurier*, Laboratoire de Recherche sur l’Hémostase, France; Dominique Meyer*, Hôpital de Bicêtre, France; Jan Michiels, Erasmus University, Rotterdam, The Netherlands; Robert Montgomery*, The Blood Center of Southeastern Wisconsin, USA; Ian Peake*, University of Sheffield, England; Anna M. Randi*, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Italy; J. Evan Sadler*, Washington University, USA; Hidehiko Saito*, Nagoya University, Japan; R. Schneppenheim, Universitäts-Kinderklinik Kiel, Germany; Jan J. Sixma*, Rijksuniversiteit te Utrecht, The Netherlands; Safia Wasi, The Canadian Red Cross, Canada: Gilbert White, University of North Carolina, USA; Paul Winter, Royal Victoria Hospital, Northern Ireland.


 

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