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

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.

• Författare: Alan Chester; Martin L Olsson
• Avdelning/ar: Avdelningen för hematologi och transfusionsmedicin; Transfusionsmedicin
• Publiceringsår: 2001
• Språk: Engelska
• Sidor: 177-200
• Publikation/Tidskrift/Serie: Transfusion Medicine Reviews
• Volym: 15
• Issue: 3
• Länkar: http://dx.doi.org/10.1053/tmrv.2001.24591
• Dokumenttyp: Artikel i tidskrift
• Förlag: Elsevier
• Ämne: Hematology
• Status: Published
• Forskningsgrupp: Transfusion Medicine
• ISBN/ISSN/Övrigt: ISSN: 0887-7963