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Lack of G blood group antigen in D IIIb erythrocytes is associated with segmental DNA exchange between RH genes
Author(s) -
Rouillac Christelle,
Kim Caroline Le Van,
Blancher Antoine,
Roubinet Francis,
Cartron Jean Pierre,
Colin Yves
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb03323.x
Subject(s) - antigen , microbiology and biotechnology , epitope , gene , phenotype , rh blood group system , biology , exon , dna , southern blot , antibody , genetics
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 D IIIb 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 D IIIb 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).