Two new molecular bases for the Dombrock null phenotype.

  title={Two new molecular bases for the Dombrock null phenotype.},
  author={Mar{\'i}a Martha R{\'i}os and Jill R Storry and Kim Hue-Roye and Amy Chung and Marion E. Reid},
  journal={British journal of haematology},
  volume={117 3},
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… CONTINUE READING

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