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

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

Author information

1
Department of Transfusion Medicine, Institute of Laboratory Medicine, Lund University, and the Blood Centre, University Hospital, Lund, Sweden.

Abstract

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.

PMID:
11471121
DOI:
10.1053/tmrv.2001.24591
[Indexed for MEDLINE]

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