Two new molecular bases for the Dombrock null phenotype.
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.
Rios
Maria
M
Immunochemistry Laboratory, New York Blood Center, 310 East 67th Street, New York, NY 10021, USA.
Storry
Jill R
JR
Hue-Roye
Kim
K
Chung
Amy
A
Reid
Marion E
ME
D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype
D001789:Blood Group Antigens; D018076:DNA, Complementary