A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression
Jakobsen, Marianne A. ; Hult, Annika K. LU ; Hellberg, Åsa LU ; Crottet, Sofia Lejon ; Sprogøe, Ulrik and Olsson, Martin L. LU
(2020)
In Transfusion Medicine
30(6).
p.508-512
- Abstract
Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity.... (More)
Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity. Results: Both individuals were serologically determined to be AweakB. Genetic testing revealed that both were heterozygous for a novel ABO*A1.01-like allele with an in-frame duplication of 21 nucleotides in exon 7 (c.543_563dup), leading to the insertion of seven amino acids (QDVSMRR). Flow cytometric testing of native red blood cells (RBCs) showed very weak A antigen expression. This was in accordance with the enzyme activity test. Conclusion: In summary, we describe a novel A allele with a duplication of 21 nucleotides in exon 7 that significantly decreases the enzyme activity and leads to very weak expression of A antigen. (200 words).
(Less)
- author
- Jakobsen, Marianne A.
; Hult, Annika K.
LU
; Hellberg, Åsa
LU
; Crottet, Sofia Lejon
; Sprogøe, Ulrik
and Olsson, Martin L.
LU
- organization
- publishing date
- 2020-12
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- ABO, blood group variant, weak A allele
- in
- Transfusion Medicine
- volume
- 30
- issue
- 6
- pages
- 5 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:33103288
- scopus:85093681838
- ISSN
- 0958-7578
- DOI
- 10.1111/tme.12730
- language
- English
- LU publication?
- yes
- id
- 536394d0-b8b9-42ab-8637-e6fa9d335e7e
- date added to LUP
- 2020-11-12 07:28:10
- date last changed
- 2024-10-03 12:56:37
@article{536394d0-b8b9-42ab-8637-e6fa9d335e7e,
abstract = {{<p>Objectives: To carry out genetic and serological analyses of a Swiss blood donor and a Danish patient carrying an aberrant ABO phenotype with weak A expression. Background: ABO is the most clinically important blood group system but also one of the most complex. The system antigens are determined by carbohydrate structures generated by A and B glycosyltransferases encoded by the ABO gene. Genetic variants of ABO may encode a glycosyltransferase with reduced activity, leading to weak expression of A antigen. Methods: Samples from two individuals were examined using genetic testing and extended immunohaematological evaluation, including standard serological methods, flow cytometry and analysis of plasma glycosyltransferase activity. Results: Both individuals were serologically determined to be A<sub>weak</sub>B. Genetic testing revealed that both were heterozygous for a novel ABO*A1.01-like allele with an in-frame duplication of 21 nucleotides in exon 7 (c.543_563dup), leading to the insertion of seven amino acids (QDVSMRR). Flow cytometric testing of native red blood cells (RBCs) showed very weak A antigen expression. This was in accordance with the enzyme activity test. Conclusion: In summary, we describe a novel A allele with a duplication of 21 nucleotides in exon 7 that significantly decreases the enzyme activity and leads to very weak expression of A antigen. (200 words).</p>}},
author = {{Jakobsen, Marianne A. and Hult, Annika K. and Hellberg, Åsa and Crottet, Sofia Lejon and Sprogøe, Ulrik and Olsson, Martin L.}},
issn = {{0958-7578}},
keywords = {{ABO; blood group variant; weak A allele}},
language = {{eng}},
number = {{6}},
pages = {{508--512}},
publisher = {{Wiley-Blackwell}},
series = {{Transfusion Medicine}},
title = {{A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression}},
url = {{http://dx.doi.org/10.1111/tme.12730}},
doi = {{10.1111/tme.12730}},
volume = {{30}},
year = {{2020}},
}