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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1121242
- author
- Chester, Alan
LU
and Olsson, Martin L
LU
- organization
- publishing date
- 2001
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Transfusion Medicine Reviews
- volume
- 15
- issue
- 3
- pages
- 177 - 200
- publisher
- W.B. Saunders
- 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
- 2016-04-01 15:38:49
- date last changed
- 2025-04-04 14:24:54
@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 = {{W.B. Saunders}},
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}},
doi = {{10.1053/tmrv.2001.24591}},
volume = {{15}},
year = {{2001}},
}