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The largest variant of platelet glycoprotein Ib alpha has four tandem
repeats of 13 amino acids in the macroglycopeptide region and a genetic
linkage with methionine145
F Ishida, K Furihata, K Ishida, J Yan, K Kitano, K Kiyosawa and S Furuta
Second Department of Internal Medicine, Shinshu University School of
Medicine, Matsumoto, Japan.
Platelet membrane glycoprotein Ib alpha (GPIb alpha) bears the human
platelet alloantigen (HPA)-2 and molecular weight (MW) polymorphisms on
sodium dodecyl sulfate-polyacrylamide gels. HPA-2 arises from a
threonine/methionine dimorphism at residue 145 of the GPIb alpha sequence,
whereas different numbers of tandem repeats of a 39-bp sequence encoding
13-amino acids corresponding to a region between serine399 and threonine411
of the GPIb alpha account for the latter. To identify the genetic basis of
the MW polymorphism among Japanese, we counted the tandem repeats in 103
individuals. In addition to the reported three variants with one, two, or
three tandem repeats, we identified a new variant with four perfect tandem
repeats of the 39-bp sequence that corresponded to the largest phenotype.
Phenotypic analysis of the MW polymorphism on 12 individuals including all
four phenotypes completely accorded in the genotype. We also determined the
genotype of HPA-2 and found that methionine145 was in complete linkage
disequilibrium, with the larger variants containing three or four tandem
repeats. These results imply a model of evolutionary steps in the gene
encoding GPIb alpha.
Volume 86,
Issue 4,
pp. 1357-1360,
08/15/1995
Copyright © 1995 by The American Society of Hematology
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