A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese. Issue 2 (10th April 2015)

• Record Type: Journal Article
• Authors: Onodera, T.; Tsuneyama, H.; Ogasawara, K.; Isa, K.; Satake, M.; Tadokoro, K.; Uchikawa, M.
• Is Part Of: Vox sanguinis. Volume 109:Issue 2(2015)
• Page Start: 191
• Page End: 193
• Publication Date: 2015-04-10
• Subjects: Blood -- Periodicals; Blood -- Transfusion -- Periodicals; Immunohematology -- Periodicals; Immunopathology -- Periodicals; 615.39
• DOI: 10.1111/vox.12260
• Languages: English
• ISSNs: 0042-9007

Abstract

<abstract abstract-type="main" id="vox12260-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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&gt;G (p.Asn265Asp) in exon 2 of the <italic>DO</italic> (<italic>ART4</italic>) gene, and the corresponding alleles are named <italic>DO*01</italic> and <italic>DO*02</italic>. The rare Do_null or Gy(a−) phenotype lacks all Dombrock antigens, and the <italic>DO</italic> null alleles vary with both <italic>DO*01</italic> and <italic>DO*02</italic> backgrounds. We report a novel <italic>DO</italic> null allele, which has a c.268C&gt;T (p.Gln90Stop) nonsense mutation with a <italic>DO*02</italic> background identified from four unrelated Gy(a−) Japanese individuals.</p> </abstract>