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

Research output: Contribution to journalArticlepeer-review

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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