The inheritance of abnormal sialoglycoproteins found in a Gerbich negative individual.
The Gerbich blood group antigens are probably expressed on one or more of the minor erythrocyte (beta, beta 1, or gamma) sialoglycoproteins which are lacking in some rare individuals having the Gerbich negative phenotype. A monoclonal antibody, CMRF-10, which recognises a trypsin-sensitive site on both the beta and beta 1 sialoglycoproteins, was tested for binding to erythrocytes from a Gerbich negative individual, OM. Erythrocytes from OM bound CMRF-10 in similar amounts to normal erythrocytes even though membranes from OM were shown by sodium dodecyl sulphate-polyacrylamide gel electrophoresis to lack both the beta and gamma sialoglycoproteins found in normal red blood cells. Instead, abnormal sialoglycoproteins which migrated as two bands with apparent molecular weights within the range 29,500-32,500 daltons were identified and purified using CMRF-10. Subsequent electrophoretic analysis of OM's two children failed to reveal any abnormal sialoglycoproteins. This suggests that in this instance the Gerbich negative phenotype may result from other mechanisms, possibly defective glycosylation, rather than a crossover involving the gene coding for the primary protein structure of the sialoglycoproteins.
D000368:Aged; D000911:Antibodies, Monoclonal / Q000276:immunology; D001789:Blood Group Antigens / Q000235:genetics* / Q000276:immunology; D004912:Erythrocytes / Q000276:immunology; D006801:Humans; D008297:Male; D010641:Phenotype; D012795:Sialoglycoproteins / Q000097:blood / Q000235:genetics* / Q000276:immunology
D000911:Antibodies, Monoclonal; D001789:Blood Group Antigens; D012795:Sialoglycoproteins