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The molecular basis of the Rhesus antigen E w
Author(s) -
Strobel Erwin,
NoizatPirenne France,
Hofmann Sabine,
Cartron Jean Pierre,
Bauer Matthias F.
Publication year - 2004
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2004.00655.x
Subject(s) - exon , antigen , point mutation , gene , rh blood group system , microbiology and biotechnology , biology , genetics , antibody , amino acid substitution , mutation , virology
BACKGROUND: The Rhesus antigen E w (ISBT designation 004 011) was first described in 1955. It is defined by a specific antibody, but its molecular genetic basis has not yet been resolved. STUDY DESIGN AND METHODS: Two individuals serologically characterized to express the rare Rhesus antigen E w were analyzed by sequencing of all 10 exons of the RHCE gene. RESULTS: A nucleotide exchange at position 500 (T500A) resulting in a Met167Lys amino acid substitution was found in both individuals. Moreover, we show that an individual carrying the E w antigen is capable to produce an alloantibody against the wild‐type E antigen. CONCLUSION: The single‐point mutation T500A in exon 4 of the RHCE gene is a molecular basis of the rare Rhesus antigen E w .