Lack of G blood group antigen in DIIIb erythrocytes is associated with segmental DNA exchange between RH genes.
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).
Rouillac
C
C
INSERM U76, Institut National de la Transfusion Sanguine, Paris, France.
Le Van Kim
C
C
Blancher
A
A
Roubinet
F
F
Cartron
J P
JP
Colin
Y
Y
D001483:Base Sequence; D015139:Blotting, Southern; D015342:DNA Probes; D004912:Erythrocytes / Q000276:immunology; D005091:Exons; D015321:Gene Rearrangement; D006801:Humans; D008969:Molecular Sequence Data; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
D015342:DNA Probes; D012204:Rh-Hr Blood-Group System