Lack of G blood group antigen in DIIIb erythrocytes is associated with segmental DNA exchange between RH genes

Br J Haematol. 1995 Feb;89(2):424-6. doi: 10.1111/j.1365-2141.1995.tb03323.x.


The Rh blood group antigens D, Cc and Ee are encoded by two highly related genes, RHD and RHCE. Almost all red cells which carry D and all cells which carry C also express the G (Rh12) antigen. In this report we have determined the molecular basis of the DIIIb category phenotype which represents a very rare condition characterized by the presence of most of the D epitopes and the total absence of the antigen G. mRNA sequencing and Southern blot analysis of two unrelated samples indicated that the DIIIb category phenotype is associated with a segmental DNA exchange between exon 2 of the RHD and RHCE genes resulting in three D-->c amino acid substitutions (Ile60Leu, Ser68Asn and Ser103Pro).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA Probes
  • Erythrocytes / immunology
  • Exons
  • Gene Rearrangement*
  • Humans
  • Molecular Sequence Data
  • Rh-Hr Blood-Group System / genetics*
  • Sequence Analysis, DNA


  • DNA Probes
  • Rh-Hr Blood-Group System