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Evidence for a new type of O allele at the ABO locus, due to a combination of the A2 nucleotide deletion and the Ael nucleotide insertion

Olsson, Martin L LU and Chester, Alan LU (1996) In Vox Sanguinis 71(2). p.113-117
Abstract
Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO genes of the propositus indicated an A2 gene (C467T and C1060-) apparently inactivated by the same single nucleotide insertion recently reported in individuals with the ABO subgroup Ael. Investigation of relatives confirmed the inheritance of this new inactive hybrid allele.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Vox Sanguinis
volume
71
issue
2
pages
113 - 117
publisher
Wiley-Blackwell
external identifiers
  • pmid:8873422
ISSN
1423-0410
DOI
10.1046/j.1423-0410.1996.7120113.x
language
English
LU publication?
yes
id
75bc7463-9fe8-4378-86e4-042c239ffcc6 (old id 1110853)
date added to LUP
2008-07-28 10:46:43
date last changed
2016-04-16 03:33:10
@article{75bc7463-9fe8-4378-86e4-042c239ffcc6,
  abstract     = {Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO genes of the propositus indicated an A2 gene (C467T and C1060-) apparently inactivated by the same single nucleotide insertion recently reported in individuals with the ABO subgroup Ael. Investigation of relatives confirmed the inheritance of this new inactive hybrid allele.},
  author       = {Olsson, Martin L and Chester, Alan},
  issn         = {1423-0410},
  language     = {eng},
  number       = {2},
  pages        = {113--117},
  publisher    = {Wiley-Blackwell},
  series       = {Vox Sanguinis},
  title        = {Evidence for a new type of O allele at the ABO locus, due to a combination of the A2 nucleotide deletion and the Ael nucleotide insertion},
  url          = {http://dx.doi.org/10.1046/j.1423-0410.1996.7120113.x},
  volume       = {71},
  year         = {1996},
}