The molecular basis of the Rhesus antigen E^w

Abstract

The single-point mutation T500A in exon 4 of the RHCE gene is a molecular basis of the rare Rhesus antigen Ew.

RhCE protein variants in Southwestern Germany detected by serologic routine testing

“…Examples of variant RhCE proteins are known that express low-prevalence antigens of appreciable immunogenicity. C w , 4 C x , 4 E w , 14 JAHK, 19 Crawford, 16 and JAL 30-32 antigens are all caused by single-amino-acid substitutions in the RhCE protein. For example, the S122L substitution (365C>T) in the Ce haplotype encodes the JAHK antigen and is associated with a suppression of the C and e antigens.…”

“…13 The molecular basis in RHCE alleles are the single-amino-acid substitution M167K (500T>A) for cat EI, 13 later recognized to express the low-prevalence antigen E w ; 14 the RHcE-D(2-3)-cE hybrid allele for cat EII; 13 the two D-specific amino acid substitutions Q233E and M238V (697C>G, 712A>G) for cat EIII; 13 and the single D-specific amino acid substitution R201T (602G>C) for cat EIV, 15 which is occurring in a cE haplotype and located suspiciously close to the amino acid 223 encoding the E/e antigens.…”

RHCE alleles detected after weak and/or discrepant results in automated Rh blood grouping of blood donors in Northern Germany

“…24 The most frequent allele was RHcE(M167K), also known as E variant I 10 or Ew-positive allele. 8 This allele was underlying 70 of 76 analyzed E typing problems, but it was exclusively detected among blood donors, indicating that it was unlikely to interfere with routine patient typing. The molecular cause of the remaining 52 samples was highly heterogenic; only three alleles, including two "new" ones, were detected in more than 3 samples.…”

“…Surveys of RHCE alleles often had been focused to non-Caucasian populations [3][4][5] or included only few samples with unusual phenotypes. [6][7][8] Hence, the knowledge on the frequency of variant RHCE alleles in European populations 9,10 was much less detailed than that of, for example, weak D alleles. In addition, a large basis of genotype-phenotype correlations 11 allowing us to derive general rules concerning the relation of phenotype and genotype is lacking.…”

Rh and RHAG Blood Group Systems

“…One E w + patient has made alloanti -E [328] . E w is always associated with DcE and, in two E w + patients, with 500T > A in exon 4 of RHCE encoding Met167Lys in the third extracellular loop [328] . E w is always associated with DcE and, in two E w + patients, with 500T > A in exon 4 of RHCE encoding Met167Lys in the third extracellular loop [328] .…”