title: A rare leucine 40/arginine40 polymorphism on platelet glycoprotein IIIa is linked to the human platelet antigen 1b.
abstract: A rare polymorphism on glycoprotein (GP) IIIa is reported. Sequencing of a 482-base-pair (bp) PCR product of the genomic DNA of GPIIIa revealed a single-base exchange of a G<==>T polymorphism at base 12,569 that created an additional restriction site for MspI. This single-point mutation (frequency in Caucasians 0.00386) is on the HPA-1b gene (HPA-1bvar) and codominantly inherited. The exchange of a G for a T results in a leucine-to-arginine substitution at amino acid 40 from the NH2 terminus. The binding of anti-HPA-1a and -1b antibodies to HPA-1bvar platelets is not influenced.
authors: Institute for Blood Group Serology, University of Vienna, Austria.
authors: S
authors: S
authors: Walchshofer
authors: D
authors: D
authors: Ghali
authors: M
authors: M
authors: Fink
authors: E R
authors: ER
authors: Panzer-Grümayer
authors: S
authors: S
authors: Panzer
mesh_terms: D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007519:Isoantigens / Q000235:genetics*; D007930:Leucine / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011446:Prospective Studies
chemical_list: D007519:Isoantigens; D010980:Platelet Membrane Glycoproteins; D001120:Arginine; D007930:Leucine