title: A novel a subtype allele that demonstrates allelic competition.
abstract: A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A(w)14; 699 C>A, H233Q) was found by sequence analysis of exons 6&7 and in those with the A(w)14 allele, complete ABO analysis was performed. The propositus and his son had an A(w) phenotype with the A(w)14/O01 genotype. His daughter had an A(w)14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A(w)14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it was co-inherited with a B101 enzyme.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
authors.forename: Da-Woon
authors.initials: DW
authors.lastname: Kim
authors.forename: Duck
authors.initials: D
authors.lastname: Cho
authors.forename: Mark Harris
authors.initials: MH
authors.lastname: Yazer
authors.forename: Ho-Jin
authors.initials: HJ
authors.lastname: Lee
authors.forename: Kyeong-Hee
authors.initials: KH
authors.lastname: Kim
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
authors.forename: Soon-Pal
authors.initials: SP
authors.lastname: Suh
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Shin
authors.forename: Dong-Wook
authors.initials: DW
authors.lastname: Ryang
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016695:Glycosyltransferases / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D017422:Sequence Analysis, DNA
chemical_list: D000017:ABO Blood-Group System; D016695:Glycosyltransferases