Short deletion within the blood group Dombrock locus causing a Donull phenotype

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Abstract
A new alteration of the blood group DO*A allele was identified in a female Donull donor from Reunion Island with allo– anti-DO3 in her serum; her parents are consanguineous. Because the amplification of the DO transcript failed, each exon and intron–exon junction from the DO gene were examined. After polymerase chain reaction (PCR) amplification and sequencing, the only deviation from the wild-type DO*A allele sequence was an 8-nucleotide deletion (nt 343-350) within exon 2. This short deletion generates a premature stop codon and encodes a truncated protein lacking the predicted functional motif of the adenosine diphosphate–ribosyltransferase enzyme and the glycosyl-phosphatidylinositol anchor motif essential for RBC membrane attachment. An allele-specific PCR to detect the DO(Δ8nt) deletion was developed.