A novel Bvar allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele

D. Cho, S. H. Kim, C. S. Ki, K. L. Choi, Y. G. Cho, J. W. Song, J. H. Shin, S. P. Suh, M. H. Yazer, Dong Wook Ryang

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Abstract

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 A1B 3. Results: Consensus sequences all B3 and 2/6 A 1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, Bvar, in the context of A101/ or A102/Bvar genotypes. Family studies based on an A 1B3 donor with the Bvar 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 coinherited ABO allele.

Original languageEnglish
Pages (from-to)187-189
Number of pages3
JournalVox Sanguinis
Volume87
Issue number3
DOIs
StatePublished - Oct 2004
Externally publishedYes

Keywords

  • ABO
  • Allele
  • Bvar
  • Genotype
  • Phenotype

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