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1: Br J Haematol. 2002 Jun;117(3):765-7.Links

Two new molecular bases for the Dombrock null phenotype.

Rios M, Storry JR, Hue-Roye K, Chung A, Reid ME.

Immunochemistry Laboratory, New York Blood Center, 310 East 67th Street, New York, NY 10021, USA.

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.

PMID: 12028057 [PubMed - indexed for MEDLINE]