Lack of G blood group antigen in DIIIb erythrocytes is associated with segmental DNA exchange between RH genes
- 1 February 1995
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 89 (2) , 424-426
- https://doi.org/10.1111/j.1365-2141.1995.tb03323.x
Abstract
Summary. 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 Ser103Pro).Keywords
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