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Substitution of Val for Met at residue 239 of platelet glycoprotein Ib
alpha in Japanese patients with platelet-type von Willebrand disease
H Takahashi, M Murata, T Moriki, H Anbo, T Furukawa, K Nikkuni, A Shibata, M Handa, Y Kawai and K Watanabe
First Department of Internal Medicine, Niigata University School of
Medicine, Japan.
Genomic DNA was studied from four patients with platelet-type von
Willebrand disease (vWD) from two Japanese families previously reported.
The entire coding region of platelet glycoprotein (GP) Ib alpha, a
component of the platelet receptor for von Willebrand factor (vWF), was
examined by polymerase chain reaction (PCR) followed by direct DNA sequence
analysis. A single point mutation was found in all patients resulting in
substitution of Val (GTG) for Met (ATG) at residue 239 of GPIb alpha. All
patients were heterozygous for the mutation, whereas none of the unaffected
family members had an amino acid substitution at residue 239. Because the
nucleotide substitution destroys an NIa III restriction site on GPIb alpha,
PCR products were subjected to digestion with this enzyme; DNA fragments
from both normal and mutant alleles were detected in all affected
individuals. In allele- specific PCR, DNA was amplified from patients'
genomic DNA using either adenine- or guanine-containing primers, whereas
only adenine-containing primer successfully amplified DNA from normal
individuals. Cloning of amplified DNA into bacteriophage M13mp19 and
subsequent DNA sequence analysis confirmed the mutation in these families.
The absence of the amino acid substitution at residue 239 of GPIb alpha in
the normal individuals tested, together with the linkage of this
substitution to the phenotypic expression of disease in these two families
and in a family recently described suggest that this amino acid change is a
molecular basis for platelet-type vWD, and the substitution may produce a
quite similar phenotype to the one reported previously (Gly to Val at
residue 233 of GPIb alpha).
Volume 85,
Issue 3,
pp. 727-733,
02/01/1995
Copyright © 1995 by The American Society of Hematology
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