Short deletion within the blood group Dombrock locus causing a Do(null) phenotype.
A new alteration of the blood group DO*A allele was identified in a female Do(null) 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(Delta8nt) deletion was developed.
Lucien
Nicole
N
INSERM-U76, Institut National de la Transfusion Sanguine, Paris, France.
Celton
Jean-Louis
JL
Le Pennec
Pierre-Yves
PY
Cartron
Jean-Pierre
JP
Bailly
Pascal
P
D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D018740:Genetic Heterogeneity; D006801:Humans; D007518:Isoantibodies / Q000097:blood; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics* / Q000502:physiology
D001789:Blood Group Antigens; D018389:Codon, Nonsense; D007518:Isoantibodies