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An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction

Olsson, Martin L LU ; Thuresson, Britt LU and Chester, Alan LU (1995) In Biochemical and Biophysical Research Communications 216(2). p.642-647
Abstract
Genomic DNA from each of four Acl individuals (genotypes AO1, AO1var, AO2) and one AclB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its postulated nucleotide sugar binding site and furthermore extend the translated protein by 37 amino acids (16 more than the A2 enzyme). A sequence-specific primer PCR assay was developed to detect the nucleotide insertion. It was possible to differentiate all 20 serologically defined Acl/AclB individuals available from 145 blood donors with normal... (More)
Genomic DNA from each of four Acl individuals (genotypes AO1, AO1var, AO2) and one AclB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its postulated nucleotide sugar binding site and furthermore extend the translated protein by 37 amino acids (16 more than the A2 enzyme). A sequence-specific primer PCR assay was developed to detect the nucleotide insertion. It was possible to differentiate all 20 serologically defined Acl/AclB individuals available from 145 blood donors with normal ABO phenotypes and genotypes and 26 individuals with various A subgroups other than A1, A2 and Acl. This mutation explains the Acl phenotype and forms the basis of a method for detecting the Ael allele. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Biochemical and Biophysical Research Communications
volume
216
issue
2
pages
642 - 647
publisher
Elsevier
external identifiers
  • pmid:7488159
  • scopus:0028971174
ISSN
1090-2104
DOI
10.1006/bbrc.1995.2670
language
English
LU publication?
yes
id
c2adf6e5-2dd8-4cc4-a9e3-86a0d183df33 (old id 1109094)
date added to LUP
2008-07-25 13:26:18
date last changed
2017-08-27 05:32:41
@article{c2adf6e5-2dd8-4cc4-a9e3-86a0d183df33,
  abstract     = {Genomic DNA from each of four Acl individuals (genotypes AO1, AO1var, AO2) and one AclB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its postulated nucleotide sugar binding site and furthermore extend the translated protein by 37 amino acids (16 more than the A2 enzyme). A sequence-specific primer PCR assay was developed to detect the nucleotide insertion. It was possible to differentiate all 20 serologically defined Acl/AclB individuals available from 145 blood donors with normal ABO phenotypes and genotypes and 26 individuals with various A subgroups other than A1, A2 and Acl. This mutation explains the Acl phenotype and forms the basis of a method for detecting the Ael allele.},
  author       = {Olsson, Martin L and Thuresson, Britt and Chester, Alan},
  issn         = {1090-2104},
  language     = {eng},
  number       = {2},
  pages        = {642--647},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction},
  url          = {http://dx.doi.org/10.1006/bbrc.1995.2670},
  volume       = {216},
  year         = {1995},
}