A DOB allele encoding an amino acid substitution (Phe62Ser) resulting in a Dombrock null phenotype

Abstract

The Dombrock null reported here is due to a single Phe62Ser mutation. The expression data confirmed that 62Ser is responsible for lack of cell surface Do, and protein modeling suggests the mutation disrupts important aromatic side chain interactions between Phe62 and His160. Production of an antibody to a high prevalence Dombrock antigen (anti-Gya) in this patient was consistent with complete absence of Dombrock/ART4 protein.

Applying molecular immunohematology discoveries to standards of practice in blood banks: now is the time

“…The clinical relevance will be captured eventually since phenotyping for antigens of these blood group systems had hitherto been impracticable, simply because there is no supply for such routine antisera 166 . In commercial reagent RBC panels, Do a/b or Sc a/b are infrequently designated, which alone would benefit patients by identifying these clinically significant alloantibodies during pretransfusion testing 36,69 Problems with availability of some antisera are paralleled by their skyrocketing costs 166 .…”

Dombrock genotyping in a native Congolese cohort reveals two novel alleles

“…Gy(a−) RBCs are the null type of the DO blood group system since they type as Do(a−b−) and lack Hy and Jo a antigens 13 . Studies using a Do glycoprotein model, based on the rat ART2.2 crystal structure, showed that Jo a and Hy polymorphisms are located in the all‐alpha Do domain situated closest to the cell membrane and the Do a /Do b polymorphism is in the all‐beta Do domain located farthest from the cell membrane 21,22 …”

Silencing and overexpression of human blood group antigens in transfusion: Paving the way for the next steps

“…The characterization of the antigenic profiles and changes in expression of proteins coded for by these variants has benefited greatly from gene transfer strategies such as overexpression of atypic alleles of the DI (a.k.a Diego) system antigens in K562 cells by transfection [45] or of various alleles of the gene coding for the DO (a.k.a Dombrock) system by lentiviral transduction into this same model cell line [7,33,46].…”