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Article

A 24-base pair deletion in the ABO gene causes a hereditary splice site defect: a novel mechanism underlying ABO blood group O.

Transfusion - 1 Jul 2020

Matzhold Eva Maria, Drexler Camilla, Wagner Andrea, Bernecker Claudia, Pessentheiner Ariane, Bogner-Strauß Juliane Gertrude, Helmberg Wolfgang, Wagner Thomas

Abstract excerpt

BACKGROUND: Blood group A and B antigens are synthesized by glycosyltransferases regulated by a complex molecular genetic background. A multibase deletion in the ABO gene was identified in two related blood donors. To define its hereditary character and to evaluate genotype-phenotype associations, a detailed study including 30 family members was conducted. METHODS AND MATERIALS: ABO phenotyping was performed with...

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PMID: 32500601
DOI: 10.1111/trf.15907
PMCID: PMC7496400

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