Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40

1993 ◽  
Vol 84 (3) ◽  
pp. 533-535 ◽  
Author(s):  
Jeroen C. J. Eikenboom ◽  
Pieter H. Reitsma ◽  
Pieter A. Velden ◽  
Ernest Briët
Keyword(s):  
Von Willebrand Factor ◽  
Tandem Repeat ◽  
Variable Number Tandem Repeat ◽  
Variable Number ◽  
Repeat Sequence ◽  
Factor Gene ◽  
Tandem Repeat Sequence ◽  
Von Willebrand ◽  
Willebrand Factor

A polymorphic (AGGAAT), tandem repeat in an intron of the canine von Willebrand factor gene

2009 ◽  
Vol 25 (2) ◽  
pp. 122-122 ◽  
Author(s):  
H Shibuya ◽  
B K Collins ◽  
T H-M Huang ◽  
G S Johnson
Keyword(s):  
Von Willebrand Factor ◽  
Tandem Repeat ◽  
Factor Gene ◽  
Von Willebrand ◽  
Willebrand Factor

The Genetic Defect of Type I von Willebrand Disease “Vicenza” Is Linked to the von Willebrand Factor Gene

1993 ◽  
Vol 69 (02) ◽  
pp. 173-176 ◽  
Author(s):  
Anna M Randi ◽  
Elisabetta Sacchi ◽  
Gian Carlo Castaman ◽  
Francesco Rodeghiero ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Von Willebrand Factor ◽  
Autosomal Dominant ◽  
Genetic Defect ◽  
Von Willebrand Disease ◽  
Type I ◽  
Bleeding Tendency ◽  
Factor Gene ◽  
Low Levels ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType I von Willebrand disease (vWD) Vicenza is a rare variant with autosomal dominant transmission, characterized by the presence of supranormal von Willebrand factor (vWF) multimers in plasma, similar to those normally found in endothelial cells and megakaryocytes. The patients have very low levels of plasma vWF contrasting with a mild bleeding tendency. The pathophysiology of this subtype is still unknown. The presence of supranormal multimers in the patients’ plasma could be due to a mutation in the vWF molecule which affects post-translational processing, or to a defect in the cells’ processing machinery, independent of the vWF molecule. In order to determne if type I vWD Vicenza is linked to the vWF gene, we studied six polymorphic systems identified within the vWF gene in two apparently unrelated families with type I vWD Vicenza. The results of this study indicate a linkage between vWF gene and the type I vWD Vicenza trait. This strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF.

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