title: 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.
abstract: 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.
authors.affiliation: Second Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Ishida
authors.forename: K
authors.initials: K
authors.lastname: Furihata
authors.forename: K
authors.initials: K
authors.lastname: Ishida
authors.forename: J
authors.initials: J
authors.lastname: Yan
authors.forename: K
authors.initials: K
authors.lastname: Kitano
authors.forename: K
authors.initials: K
authors.lastname: Kiyosawa
authors.forename: S
authors.initials: S
authors.lastname: Furuta
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005075:Biological Evolution; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D006801:Humans; D007519:Isoantigens / Q000737:chemistry / Q000235:genetics; D008297:Male; D008715:Methionine / Q000737:chemistry; D008969:Molecular Sequence Data; D008970:Molecular Weight; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D007519:Isoantigens; D010980:Platelet Membrane Glycoproteins; D008715:Methionine