Blood, 1 August 2002, Vol. 100, No. 3, pp. 1063-1064
BRIEF REPORT
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
From INSERM-U76, Institut National de la Transfusion
Sanguine, Paris, and EFS Guyane, Cayenne, France.
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(
8nt) deletion
was developed.
