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RHCE‐D‐CE hybrid genes can cause false‐negative DNA typing of the Rh e antigen
Author(s) -
Hundhausen T.,
Petershofen E. K.,
Doescher A.,
Bauerfeind U.,
Müller T. H.,
Schunter F.
Publication year - 2002
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1046/j.1423-0410.2002.00220.x
Subject(s) - typing , genotyping , rh blood group system , biology , multiplex , multiplex polymerase chain reaction , antigen , microbiology and biotechnology , genetics , gene , polymerase chain reaction , allele , amplicon , genotype , antibody
Background and Objectives DNA typing of the human Rh blood groups generally shows good agreement with serologically defined phenotypes. However, in the present report we describe four individuals who were declared Rh e negative by genotyping although they express the Rh e antigen. Materials and Methods Serotyping was performed using mono‐ and polyclonal Rh antisera. Fluorescent multiplex sequence‐specific polymerase chain reactions (PCR–SSPs) identified RHD exons and the polymorphisms usually associated with the Rh E/e or Rh C/c/C w antigens. Additional PCR amplification reactions, which were carried out to reveal RHCE‐ D ‐CE hybrid genes, analysed exon 5 of the RH genes, the location of the polymorphism (676C→G) coding for the Rh E and Rh e antigens. Results Four individuals were identified who expressed Rh e antigens but were negative by PCR–SSP typing for common Rhe ‐coding sequences. In one family analysed in detail, an RHCE‐D 5 ‐CE hybrid gene associated with Rh e antigen expression was identified. A concomitant RHcE allele accounted for a seemingly regular typing pattern by conventional RH PCR. Conclusions The presence of RHCE‐D 5 ‐CE hybrid alleles may cause false‐negative DNA‐typing results for the Rh e antigen that are easily overlooked unless appropriate RH hybrid PCR–SSPs are incorporated into conventional DNA‐typing protocols. These and previous data strongly caution against an uncritical interpretation of RH DNA‐typing results.