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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; Hellberg, Åsa; Crottet, Sofia Lejon; Sprogøe, Ulrik; Olsson, Martin L.
Afiliación
  • Jakobsen MA; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • Hult AK; Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
  • Hellberg Å; Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
  • Crottet SL; Swiss National Immunohematology Reference Laboratory bei Interregional Blood Transfusion SRC, Bern, Switzerland.
  • Sprogøe U; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • Olsson ML; Clinical Immunology and Transfusion Medicine, Office of Medical Services, Lund, Sweden.
Transfus Med ; 30(6): 508-512, 2020 Dec.
Article en En | MEDLINE | ID: mdl-33103288
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 Aweak 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).
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema del Grupo Sanguíneo ABO / Exones / Alelos / Eritrocitos / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Aged / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Transfus Med Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema del Grupo Sanguíneo ABO / Exones / Alelos / Eritrocitos / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Aged / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Transfus Med Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Reino Unido