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The R 0 Har Rh:33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene
Author(s) -
Beckers E. A. M.,
Faas B. H. W.,
Krvon dem Borne A. E. G.,
Overbeeke M. A. M.,
Van Rhenen D. J.,
Van Der Schoot C. E.
Publication year - 1996
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 - 10.1046/j.1365-2141.1996.382918.x
Subject(s) - exon , rh blood group system , microbiology and biotechnology , gene , genetics , genotyping , biology , typing , phenotype , haplotype , sequence analysis , genotype , antibody
The highly polymorphic Rh (Rhesus) system is encoded by two homologous genes, one encoding the D polypeptide and the other the CcEe polypeptides. Partial D antigens may be caused by gene rearrangements, deletions or point mutations. In this study the molecular basis of R 0 Har Rh:33, a Rh phenotype of low frequency, is described. The R 0 Har Rh:33 phenotype is characterized by partial expression of D, altered expression of e, absence of G and the presence of two antigens of low frequency: Rh33 and FPTT. Southern blot analysis, RHD typing by PCR and sequence analysis of Rh transcripts revealed that the RHD gene is absent in subjects with this phenotype. Apart from the expected RHCE transcripts, a new Rh transcript, RHc(D)(e) , was identified in three unrelated individuals expressing R 0 Har Rh:33. The RHc(D)(e) transcript showed the same sequence as the RHce transcript, with the exception of exon 5, which was substituted by the corresponding exon of the RHD gene. A method for PCR‐based genotyping was developed to determine specifically the c(D)(e) haplotype. The c(D)(e) PCR proved to be a reliable alternative method for R 0 Har Rh:33 typing.