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

Chester, Alan LU and Olsson, Martin L LU (2001) In Transfusion Medicine Reviews 15(3). p.177-200
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,... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Transfusion Medicine Reviews
volume
15
issue
3
pages
177 - 200
publisher
Elsevier
external identifiers
  • pmid:11471121
  • scopus:0034888001
ISSN
0887-7963
DOI
10.1053/tmrv.2001.24591
language
English
LU publication?
yes
id
7b09fb6c-b753-4d5e-93fc-b6e282feb1cc (old id 1121242)
date added to LUP
2008-06-26 08:57:15
date last changed
2018-01-07 08:43:03
@article{7b09fb6c-b753-4d5e-93fc-b6e282feb1cc,
  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.},
  author       = {Chester, Alan and Olsson, Martin L},
  issn         = {0887-7963},
  language     = {eng},
  number       = {3},
  pages        = {177--200},
  publisher    = {Elsevier},
  series       = {Transfusion Medicine Reviews},
  title        = {The ABO blood group gene: a locus of considerable genetic diversity},
  url          = {http://dx.doi.org/10.1053/tmrv.2001.24591},
  volume       = {15},
  year         = {2001},
}