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Polymorphism and recombination events at the ABO locus: a major challenge for genomic ABO blood grouping strategies

Olsson, Martin L LU and Chester, Alan LU (2001) In Transfusion Medicine 11(4). p.295-313
Abstract
The blood group ABO gene codes for a glycosyltransferase that adds the ultimate monosaccharide to a glycoconjugate and forms the A or B blood group specific antigen. The DNA structure of the three major alleles of the human blood group ABO system was first described in 1990. This review describes the subsequent developments, including the increasing number of variants of these common alleles and the underlying mutations thought to be responsible for the occurrence of some of the weak subgroups of blood group A and B. Several inactive (O) alleles are also now known. Our knowledge of the DNA sequence of the normal A and B alleles and of the rare and intriguing cisAB and B(A) phenotypes has resulted in plausible explanations for these.... (More)
The blood group ABO gene codes for a glycosyltransferase that adds the ultimate monosaccharide to a glycoconjugate and forms the A or B blood group specific antigen. The DNA structure of the three major alleles of the human blood group ABO system was first described in 1990. This review describes the subsequent developments, including the increasing number of variants of these common alleles and the underlying mutations thought to be responsible for the occurrence of some of the weak subgroups of blood group A and B. Several inactive (O) alleles are also now known. Our knowledge of the DNA sequence of the normal A and B alleles and of the rare and intriguing cisAB and B(A) phenotypes has resulted in plausible explanations for these. Allelic variations outside the translated exons have been investigated and resulted in detection of lineage-specific intron mutations and the discovery of an enhancer VNTR region affecting the rate of transcription at this locus. The occurrence of hybrid alleles can also explain hitherto abnormal inheritance in some pedigrees. The detection of hybrid alleles has been made possible by the presence of numerous polymorphisms found in the various ABO alleles. The role of chi (chi) sequences is discussed. Finally, the various genotyping methods available are summarized and their advantages and limitations are analysed in the light of the increasing allelic variation. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ABO gene, allelic variation, polymorphism
in
Transfusion Medicine
volume
11
issue
4
pages
295 - 313
publisher
Wiley-Blackwell
external identifiers
  • pmid:11532186
  • scopus:0034888213
ISSN
0958-7578
DOI
language
English
LU publication?
yes
id
3db38c15-1f05-4e89-b671-b8db6cba2f28 (old id 1121233)
date added to LUP
2008-07-09 09:21:54
date last changed
2018-06-17 04:52:11
@article{3db38c15-1f05-4e89-b671-b8db6cba2f28,
  abstract     = {The blood group ABO gene codes for a glycosyltransferase that adds the ultimate monosaccharide to a glycoconjugate and forms the A or B blood group specific antigen. The DNA structure of the three major alleles of the human blood group ABO system was first described in 1990. This review describes the subsequent developments, including the increasing number of variants of these common alleles and the underlying mutations thought to be responsible for the occurrence of some of the weak subgroups of blood group A and B. Several inactive (O) alleles are also now known. Our knowledge of the DNA sequence of the normal A and B alleles and of the rare and intriguing cisAB and B(A) phenotypes has resulted in plausible explanations for these. Allelic variations outside the translated exons have been investigated and resulted in detection of lineage-specific intron mutations and the discovery of an enhancer VNTR region affecting the rate of transcription at this locus. The occurrence of hybrid alleles can also explain hitherto abnormal inheritance in some pedigrees. The detection of hybrid alleles has been made possible by the presence of numerous polymorphisms found in the various ABO alleles. The role of chi (chi) sequences is discussed. Finally, the various genotyping methods available are summarized and their advantages and limitations are analysed in the light of the increasing allelic variation.},
  author       = {Olsson, Martin L and Chester, Alan},
  issn         = {0958-7578},
  keyword      = {ABO gene,allelic variation,polymorphism},
  language     = {eng},
  number       = {4},
  pages        = {295--313},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion Medicine},
  title        = {Polymorphism and recombination events at the ABO locus: a major challenge for genomic ABO blood grouping strategies},
  url          = {http://dx.doi.org/},
  volume       = {11},
  year         = {2001},
}