Diversity of glycoprotein deficiencies in Glanzmann's thrombasthenia.
The platelet proteins of 9 thrombasthenic patients from 7 families were analysed by high resolution two-dimensional gel electrophoresis (HR-2DE) and crossed immunoelectrophoresis (CIE). In 7 patients both glycoproteins (GPs) IIb and IIIa were absent or reduced to roughly the same extent. In two related patients only a trace of GP IIb-IIIa complex was detected in CIE, but HR-2DE revealed a glycopeptide in the position of GP IIIa in an amount comparable to type II thrombasthenia. This GP IIIa-like component was neither recognized normally by anti-GP IIb-IIIa antibodies nor labeled by surface iodination. In unreduced-reduced two-dimensional gel electrophoresis two components were observed in the region of GP IIIa. The assumption of a structural variant of GP IIIa in the two related patients is discussed.
D001791:Blood Platelet Disorders / Q000097:blood*; D001792:Blood Platelets / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D006023:Glycoproteins / Q000032:analysis* / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000032:analysis* / Q000097:blood / Q000235:genetics; D010084:Oxidation-Reduction; D010980:Platelet Membrane Glycoproteins; D013915:Thrombasthenia / Q000097:blood* / Q000235:genetics
D006023:Glycoproteins; D008565:Membrane Proteins; D010980:Platelet Membrane Glycoproteins