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Single point mutation in human glycoprotein IIIa is associated with a new
platelet-specific alloantigen (Mo) involved in neonatal alloimmune
thrombocytopenia
RW Kuijpers, S Simsek, NM Faber, R Goldschmeding, RK van Wermerkerken and AE von dem Borne
Central Laboratory of the Red Cross Blood Transfusion Service, Amsterdam.
Here we describe a new platelet-specific alloantigen that was identified in
a case of neonatal alloimmune thrombocytopenia. This antigen has
provisionally been called "Mo." By studying the Mo family, it was shown to
be inherited in an autosomal dominant manner. Immunoprecipitation and
Western blot analysis showed that the antigen resides on platelet
glycoprotein IIIa (GP IIIa). Genomic analysis, performed by applying
polymerase chain reaction and sequencing, showed a C-->G substitution of
base pair 1267 of the coding region of the DNA for GP IIIa, resulting in a
substitution of Proline407 by Alanine407. That this substitution is
associated with the antigen could be demonstrated by restriction fragment
length polymorphism analysis of cDNA, prepared from platelet RNA, and of
genomic DNA. It was confirmed by dot-blot hybridization with
allele-specific oligonucleotides. All family members, also those being Mo
antigen-positive, were healthy. None of them appeared to suffer from
increased tendency of bleeding or thrombosis. Thus, the Mo mutation does
not lead to significant platelet dysfunction in vivo with heterozygous
carriers. One of 450 random healthy blood donors who were tested was
positive for the Mo antigen. Typing was performed by the classical
serologic methods as well as by DNA analysis.
Volume 81,
Issue 1,
pp. 70-76,
01/01/1993
Copyright © 1993 by The American Society of Hematology
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