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Family studies and prenatal diagnosis in severe von Willebrand disease by
polymerase chain reaction amplification of a variable number tandem repeat
region of the von Willebrand factor gene
IR Peake, D Bowen, P Bignell, MB Liddell, JE Sadler, G Standen and AL Bloom
Department of Haematology, University of Wales College of Medicine,
Cardiff, UK.
We have previously demonstrated within intron 40 of the von Willebrand
factor (vWF) gene a region of ATCT repeats that was shown to vary in length
between two different DNA clones from unrelated individuals. The polymerase
chain reaction (PCR) was used to examine the variability in length of this
variable number tandem repeat (VNTR) in 53 normal individuals, using
primers to DNA sequence flanking the repeat region. Overall, eight
different length allelic bands were seen. These were individually sequenced
and shown to contain from 6 to 14 ATCT repeats (a nine-repeat band was not
seen). Seventy-five percent of individuals were shown to be heterozygous
for this vWF.VNTR, and family studies showed Mendelian inheritance with
allelic frequencies from 1% (vWF.VNTR [8] and vWF.VNTR [14]) to 39%
(vWF.VNTR [7]). In the family of a patient with type III severe von
Willebrand disease (vWD), vWF.VNTR results mirrored the phenotypic data and
results with previously reported intragenic vWF restriction fragment length
polymorphisms (RFLP). The patient was shown to be a compound heterozygote.
In a family with a child with severe type III vWD, prenatal diagnosis by
vWF.VNTR analysis on DNA obtained by chorionic villus sampling at 10 weeks
gestation during a subsequent pregnancy indicated a severely affected
fetus. This diagnosis was confirmed by fetal blood sampling at 18 weeks.
Volume 76,
Issue 3,
pp. 555-561,
08/01/1990
Copyright © 1990 by The American Society of Hematology
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