Submitted December 20, 2001
Accepted March 9, 2002
A short deletion within the blood group Dombrock locus causing a Donull phenotype
Nicole Lucien, Jean-Louis Celton, Pierre-Yves Le Pennec, Jean-Pierre Cartron*, and Pascal Bailly
INSERM Unite 76, Institut National de la Transfusion Sanguine, Paris Cedex 15, France
Blood Transfusion Service, EFS-Guyane, Cayenne, French Guiana
* Corresponding author; email: cartron{at}idf.inserm.fr.
A new alteration of the blood group DO*A allele was identified in a female Donull donor from the Reunion Island with an allo-anti-DO3 in her serum and having consanguinous parents. As the amplification of the DO transcript failed, each exon and intron/exon junctions from the DO gene were examined. After PCR amplification and sequencing, the only deviation from the wild-type DO*A allele sequence was a 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 ADP-ribosyltransferase enzyme and the glycosyl-phosphatidylinositol anchor motif essential for RBC membrane attachment. An allele-specific PCR to detect the DO(
8nt) deletion was developed.
