title: Molecular genetic analysis of the ABO blood group system: 2. cis-AB alleles.
abstract: We have determined the nucleotide sequence of the coding region in the last two coding exons of ABO genes from two cis-AB individuals (genotype cis-AB/O) with no consanguinity. In this region, cis-AB alleles from these 2 individuals were identical to one another while different from the A1 allele by two nucleotide substitutions. Both of these nucleotide substitutions result in amino acid substitutions. The first substitution is identical to the one previously found in the A2 allele. The other substitution is found at the fourth position of the four amino acid substitutions which discriminate A1 and B transferases.
authors.affiliation: Biomembrane Institute, University of Washington, Seattle 98119.
authors.forename: F
authors.initials: F
authors.lastname: Yamamoto
authors.forename: P D
authors.initials: PD
authors.lastname: McNeill
authors.forename: Y
authors.initials: Y
authors.lastname: Kominato
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: S
authors.initials: S
authors.lastname: Hakomori
authors.forename: S
authors.initials: S
authors.lastname: Ishimoto
authors.forename: S
authors.initials: S
authors.lastname: Nishida
authors.forename: M
authors.initials: M
authors.lastname: Shima
authors.forename: Y
authors.initials: Y
authors.lastname: Fujimura
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D003434:Crossing Over, Genetic; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D000017:ABO Blood-Group System; D005700:Galactosyltransferases; D017350:N-Acetylgalactosaminyltransferases; C003742:UDPgalactosamine-galactose acetylgalactosaminyltransferase; C023155:blood-group-substance alpha-D-galactosyltransferase