Work

A novel cisAB allele with a missense variant (c.971T>C) in the ABO gene of a Brazilian family

Year: 2024

Type: article

Abstract: BACKGROUND AND OBJECTIVES: Missense variants in exon 7 of the ABO gene can lead to the formation of cisAB alleles. These alleles encode glycosyltransferases (GTs) capable of synthesizing both A and B antigens. In this study, we report the discovery of a novel cisAB allele and characterize it at molecular, protein and serological levels. MATERIALS AND METHODS: Blood and DNA samples from the proband and seven relatives were examined using standard and modified ABO phenotyping, polymerase chain reaction-restriction fragment length polymorphism and ABO gene sequencing. We assessed the impact of the p.Leu324Ser variant on the protein structure of the mutant GT using bioinformatics tools. RESULTS: Molecular tests revealed a c.971T>C (p.Leu324Ser) variant in the ABO gene in five of the eight individuals. This variant results in a GT that produces more A antigens and fewer B antigens. Bioinformatics analysis suggests that the amino acid substitution (p.Leu324Ser) could potentially affect enzymatic activity and specificity of the GT. CONCLUSION: phenotype.

Source: Vox Sanguinis

DOI: 10.1111/vox.13727

Authors: Marcos Paulo Miola, Caroline Luise Prochaska, Guilherme Cardoso, Octávio Ricci Junior, Luiz Carlos de Mattos

Institution: Faculdade de Medicina de São José do Rio Preto

Language: English

Topic: Blood groups and transfusion

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Fundação de Amparo à Pesquisa do Estado de São Paulo