Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40.
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.
Eikenboom
J C
JC
Department of Haematology, University Hospital Leiden, The Netherlands.
Reitsma
P H
PH
van der Velden
P A
PA
Briët
E
E
D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D010334:Paternity; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor; D004247:DNA