Inheritance of the human platelet alloantigen, PlA1, in type I Glanzmann's thrombasthenia.
The hereditary of the human platelet alloantigen, PlA1, has been studied in Glanzmann's thrombasthenia. The PlA1 content of platelets from three patients, 20 kindred of these patients, including parents and siblings, and 15 unrelated normal individuals was determined using immunologic techniques based on the release of 51Cr from labeled platelets. The amount of membrane glycoproteins (GP) IIb and IIIa in the platelets of these individuals was determined by quantitative crossed immunoelectrophoresis of Triton X-100 soluble proteins using a multispecific rabbit antibody raised against normal platelets. Platelets from the three thrombasthenic patients contained neither detectable GP IIb and GP IIIa nor detectable PlA1 antigen. Platelets from seven kindred with normal amounts of GP IIb and GP IIIa contained PlA1 antigen levels identical to those detected in platelets of normal individuals. Platelets from 13 kindred, including each parent studied, were shown to contain an amount of GP IIb and GP IIIa equivalent to 53% of that amount detected on normal platelets. Platelets from the same individuals expressed amounts of PlA1 antigen that were either 54.0 +/- 4.1 (mean +/- SD) or 28.0 +/- 2.7% of that present on platelets of normal individuals homozygous for the Al allele. The results presented in this report provide evidence that the expression of the thrombasthenic glycoprotein abnormality and the inheritance of PlA1 antigen are controlled by different genes. These results further suggest that lack of expression of the PlA1 antigen on thrombasthenic platelets results from the decrease or absence of the glycoprotein carrier of the PlA1 determinant, previously shown to be GP IIIa.
D000954:Antigens, Surface / Q000235:genetics; D001791:Blood Platelet Disorders / Q000235:genetics* / Q000276:immunology; D001792:Blood Platelets / Q000276:immunology*; D005786:Gene Expression Regulation; D005796:Genes; D006023:Glycoproteins / Q000097:blood / Q000235:genetics; D006801:Humans; D007519:Isoantigens / Q000235:genetics*; D010375:Pedigree
D000954:Antigens, Surface; D006023:Glycoproteins; D007519:Isoantigens