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A novel variant DO*A allele with a c.370delT mutation leading to a DO‐null phenotype in a Syrian family.

Authors :
Morin, Pierre‐Aurèle
Ethier, Carole
Lavoie, Josée
Robitaille, Nancy
Baillargeon, Nadia
Source :
Transfusion. Feb2021, Vol. 61 Issue 2, pE16-E17. 2p.
Publication Year :
2021

Abstract

A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family The Dombrock antigens are clinically relevant blood group antigens, known for potentially causing delayed and acute hemolytic transfusion reactions, although no hemolytic disease of the fetus and newborn has been described.1,2 We report here a new DO allele in a family of Syrian origin caused by a c.370delT (p.Leu124Cys) nonsense mutation, leading to a DO-null phenotype (ISBT Allele Number I DO*01 N.05 i , GenBank Accession Number MT747635). In this report, we describe a novel I DO*A i allele (c.370delT [p.Leu124Cysfs*4]) involving a nonsense mutation, leading to absent expression of all Dombrock antigens or a DO-null phenotype. [Extracted from the article]

Details

Language :
English
ISSN :
00411132
Volume :
61
Issue :
2
Database :
Academic Search Index
Journal :
Transfusion
Publication Type :
Academic Journal
Accession number :
148722874
Full Text :
https://doi.org/10.1111/trf.16193