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

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Author

Summary, in English

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.

Publishing year

2001

Language

English

Pages

177-200

Publication/Series

Transfusion Medicine Reviews

Volume

15

Issue

3

Document type

Journal article

Publisher

Elsevier

Topic

  • Hematology

Status

Published

Research group

  • Transfusion Medicine

ISBN/ISSN/Other

  • ISSN: 0887-7963