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Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40
J C Eikenboom1, P H Reitsma, P A van der Velden
1Department of Haematology, University Hospital Leiden, The Netherlands.
British Journal of Haematology
|July 1, 1993
Abstract:
The von Willebrand factor gene contains a highly polymorphic variable number tandem repeat sequence (VNTR) in intron 40. We observed the spontaneous mutation to a new length allele. Sequence analysis revealed that the change in length corresponds to one tetranucleotide repeat unit. This observation emphasizes the risk of errors in family studies and prenatal diagnosis due to VNTR instability.