Genetic Basis for Cellular Antigens
The ABO locus is on chromosome number 9. There are three major allelic genes and numerous rare genes. The three principle genes are A, B, and O. The A gene determines the product N-acetylgalactosaminyltranferase activity. The B gene determines galactosyltransferase activity. The O gene does not produce a functional enzyme. The enzyme products of the A and/or B genes act on H substance to convert it to A and/or B antigens. Not all H substance is converted; thus, all cells normally contain some H substance along with the A and/or B antigens. If both the A and B genes are present, some H antigen sites are converted to A antigen and other H antigen sites are converted to B antigen. (A single antigen site does not have both A and B antigens.) The O gene is an amorph and doesn’t act on H substance, therefore group O cells contain only H substance. See the diagram on the next page.