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A novel ABO allele ...
A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression
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- Jakobsen, Marianne A. (författare)
- Odense University Hospital
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- Hult, Annika K. (författare)
- Regional Laboratories Region Skåne
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- Hellberg, Åsa (författare)
- Regional Laboratories Region Skåne
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- Crottet, Sofia Lejon (författare)
- Interregional Blood Transfusion SRC Ltd, Bern
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- Sprogøe, Ulrik (författare)
- Odense University Hospital
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- Olsson, Martin L. (författare)
- Lund University,Lunds universitet,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Transfusion Medicine,Lund University Research Groups,Regional Laboratories Region Skåne
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(creator_code:org_t)
- 2020-10-26
- 2020
- Engelska 5 s.
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Ingår i: Transfusion Medicine. - : Wiley. - 0958-7578 .- 1365-3148. ; 30:6, s. 508-512
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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).
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Nyckelord
- ABO
- blood group variant
- weak A allele
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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