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Two new molecular bases for the Dombrock null phenotype

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Author

  • Maria Rios
  • Jill Storry
  • Kim Hue-Roye
  • Amy Chung
  • Marion E Reid

Summary, in English

Red blood cells (RBCs) with the Do(null) phenotype lack all antigens in the Dombrock blood group system, i.e. Do(a), Do(b), Gy(a), Hy and Jo(a). Sequence analysis of DNA from one proband with the Do(null) phenotype revealed a single nucleotide mutation of t to c in the donor splice site of DO (IVS1 + 2t > c), with outsplicing of exon 2. Analysis of a second proband revealed a homozygous nonsense mutation 442 C > T in exon 2 predicting a premature stop codon (Gln148 Stop). The molecular bases described in these two probands provide an explanation for the lack of Do glycoprotein on their RBCs.

Publishing year

2002

Language

English

Pages

765-767

Publication/Series

British Journal of Haematology

Volume

117

Issue

3

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Status

Published

ISBN/ISSN/Other

  • ISSN: 0007-1048