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Rearrangements of the blood group RhD gene associated with the DVI category
phenotype
I Mouro, C Le Van Kim, C Rouillac, DJ van Rhenen, PY Le Pennec, P Bailly, JP Cartron and Y Colin
Unite INSERM U76, Institut National de Transfusion Sanguine, Paris, France.
The Rh (Rhesus) blood group antigens, D, Cc, and Ee, are carried by three
unglycosylated membrane proteins of the human erythrocytes encoded by two
highly related genes, D and CcEe. The major antigen, D, is a mosaic
composed of at least nine determinants (epD1 through epD9). The lack of
expression of some of these D epitopes at the surface of variant red blood
cells defines the so-called D category phenotypes. In this report, we have
determined the molecular basis of the DVI category phenotype characterized
by the lack of epitopes D1, D2, D5, D6/7, and D8. Southern blot analysis
and mRNA sequencing showed that the DVI phenotype is associated with two
types of rearrangement of the D gene. Of 10 DVI genomes investigated, 8
exhibited a segmental DNA replacement (gene conversion) between the D
fragment encompassing exons 4, 5, and 6 and the equivalent region of the
CcEe gene. In the two other variants, these three exons are deleted. In
both cases, the genomic rearrangement did not alter the reading frame of
the variant RhD transcripts that are translated in 417 and 266 amino acid
polypeptides, respectively. A heterogeneity of category DVI samples based
on variable reactivity of the red blood cells with anti-D antibodies was
previously found to be associated with the CDVIe or cDVIE haplotypes.
Interestingly, our present results indicated that this serologic
subdivision of the DVI category is correlated to two types of genomic
rearrangements of the D gene.
Volume 83,
Issue 4,
pp. 1129-1135,
02/15/1994
Copyright © 1994 by The American Society of Hematology
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