The existence of atypical blood group galactosyltransferase which causes an expression of A2 character in A1B red blood cells.
It is generally accepted that the blood group subtypes A1 and A2 expressions are controlled by two different blood group N-acetylgalactosaminyl-transferases, that is, A1-enzyme and A2-enzyme, respectively, and that the two types of enzymes are governed by the allelic A1 and A2 genes. The observed frequencies of blood types in Caucasians are compatible to this model. However, the subtype A2 character is far more frequently observed in AB red cells than in A red cells in some black and Oriental populations. Two black blood samples with phenotype A2B contained A1-enzyme, but not A2-enzyme, and exhibited several times higher B-enzyme activity than control AB and B blood. The kinetic properties, that is, pH-activity profile and Km for UDP-Gal, of the B-enzyme from these two A2B subjects differed from that of control B-enzyme. In these two cases, therefore, the A2 character was not caused by the subactive A2-enzyme, but because of an insufficient formation of the A-substances in red cell membranes presumably caused by the competition between the A1-enzyme and the super active atypical B-enzyme at the common H-sites. The results suggest that the B gene can be subdivided into usual B1 and atypical B2, and that not only A2B subjects but also A1B2 subjects could express A2 character in their red cells. The B2 gene may be common in certain black and Oriental populations.
D000017:ABO Blood-Group System / Q000235:genetics*; D044383:Black People; D005700:Galactosyltransferases / Q000097:blood / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005796:Genes; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007527:Isoenzymes / Q000097:blood / Q000235:genetics*; D007700:Kinetics; D010641:Phenotype; D013379:Substrate Specificity
D000017:ABO Blood-Group System; D007527:Isoenzymes; D005700:Galactosyltransferases