title: A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.
abstract: OBJECTIVE
  Genetic analysis of group B donors in Korea was performed.
  
  
  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.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hospital, Gwangju, South Korea.
authors.forename: D
authors.initials: D
authors.lastname: Cho
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
authors.forename: C S
authors.initials: CS
authors.lastname: Ki
authors.forename: K L
authors.initials: KL
authors.lastname: Choi
authors.forename: Y G
authors.initials: YG
authors.lastname: Cho
authors.forename: J W
authors.initials: JW
authors.lastname: Song
authors.forename: J H
authors.initials: JH
authors.lastname: Shin
authors.forename: S P
authors.initials: SP
authors.lastname: Suh
authors.forename: M H
authors.initials: MH
authors.lastname: Yazer
authors.forename: D W
authors.initials: DW
authors.lastname: Ryang
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D001782:Blood Donors; D004247:DNA / Q000235:genetics; D005260:Female; D015870:Gene Expression; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D000017:ABO Blood-Group System; D004247:DNA