title: A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese.
abstract: The Dombrock blood group system consists of two antithetical antigens, Do(a) (DO1) and Do(b) (DO2), and seven high-prevalence antigens, Gy(a) (DO3), Hy (DO4), Jo(a) (DO5), DOYA (DO6), DOMR (DO7), DOLG (DO8) and DOLC (DO9). Do(a) /Do(b) polymorphism is associated with c.793A>G (p.Asn265Asp) in exon 2 of the DO (ART4) gene, and the corresponding alleles are named DO*01 and DO*02. The rare Donull or Gy(a-) phenotype lacks all Dombrock antigens, and the DO null alleles vary with both DO*01 and DO*02 backgrounds. We report a novel DO null allele, which has a c.268C>T (p.Gln90Stop) nonsense mutation with a DO*02 background identified from four unrelated Gy(a-) Japanese individuals.
authors: Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
authors: T
authors: T
authors: Onodera
authors: Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
authors: H
authors: H
authors: Tsuneyama
authors: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors: K
authors: K
authors: Ogasawara
authors: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors: K
authors: K
authors: Isa
authors: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors: M
authors: M
authors: Satake
authors: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors: K
authors: K
authors: Tadokoro
authors: Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
authors: M
authors: M
authors: Uchikawa
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data
chemical_list: D001789:Blood Group Antigens; D018389:Codon, Nonsense
keywords: DO null allele; Dombrock blood group; Gy(a-)