This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinositol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known.[6]
Several antigens have been recognised in this family. These are DO*A, DO*JO1, DO*A-WL, DO*DOYA, DO*B, DO*B-WL, DO*B-SH-Q149K, DO*B-(WL)-I175N, DO*HY1, DO*HY2 and DO*DOMR.
Clinical testing in patient care for Dombrock antigens follows published minimum quality and operational requirements,[7] similar tored cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect Dombrock antigens expression on thered cell membrane.
Mauthe J, Coghlan G, Zelinski T (2000). "Confirmation of the assignment of the Dombrock blood group locus (DO) to chromosome 12p: narrowing the boundaries to 12p12.3-p13.2".Vox Sanguinis.79 (1):53–6.doi:10.1046/j.1423-0410.2000.7910053.x.PMID10971215.S2CID46880136.
Gubin AN, Njoroge JM, Wojda U, Pack SD, Rios M, Reid ME, Miller JL (Oct 2000). "Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family".Blood.96 (7):2621–7.doi:10.1182/blood.V96.7.2621.PMID11001920.
Grahnert A, Friedrich M, Engeland K, Hauschildt S (Sep 2005). "Analysis of mono-ADP-ribosyltransferase 4 gene expression in human monocytes: splicing pattern and potential regulatory elements".Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression.1730 (3):173–86.doi:10.1016/j.bbaexp.2005.08.001.PMID16140404.
