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Transfus Med Rev. 2001 Jul;15(3):177-200.

The ABO blood group gene: a locus of considerable genetic diversity.

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Department of Transfusion Medicine, Institute of Laboratory Medicine, Lund University, and the Blood Centre, University Hospital, Lund, Sweden.


The blood group ABO gene shows considerable polymorphism in most of the 7 exons. Introns examined so far have also shown blood group-related polymorphisms, as has an upstream enhancer region. Several polymorphisms affect the specificity of the gene product (glycosyltransferase) and explain the occurrence of blood group A and B. Various lethal mutations result in blood group O. Other mutations are presumed to alter the activity rather than the specificity of the enzyme and result in weaker A and B blood group phenotypes. In total, 27 A alleles, 15 B alleles, 26 O alleles, and 4 AB hybrid alleles are described and surely more will surface in the near future. Variation in geographic/ethnic distribution of allele frequencies is discussed, along with the confusing nomenclatures currently in use.

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