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Updated: Aug 14, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele
1Department of Laboratory Medicine, Chonnam National University Hospital, Gwangju, South Korea.
Background And Objectives:
Genetic analysis of group B donors in Korea was performed.
Materials And Methods:
Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3.
Results:
Consensus sequences all B3 and 2/6 A1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, B(var), in the context of A101/ or A102/B(var) genotypes. Family studies based on an A1B3 donor with the B(var) allele and on another unrelated subject with identical genotype and phenotype revealed B(var)/O01 genotypes with full B-antigen expression.
Conclusions:
B(var) allele is subject to differential expression, depending on the co-inherited ABO allele.
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