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The low prevalence Rh antigen Be a (Rh36) is associated with RHCE*ce 662C>G in exon 5, which is predicted to encode Rhce 221Arg
Author(s) -
HueRoye K.,
O’Shea K.,
Gillett R.,
Wadsworth L. D.,
Hume H.,
Barnes J.,
Kinney J.,
Hodgins K.,
Fuchisawa A.,
LomasFrancis C.,
Reid M.
Publication year - 2010
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 - 10.1111/j.1423-0410.2009.01277.x
Subject(s) - proband , microbiology and biotechnology , exon , genetics , loss of heterozygosity , biology , genomic dna , complementary dna , antigen , allele , gene , mutation
Background and Objectives The low prevalence antigen, Be a , is produced by a complex that also produces weak c, e and f (ce). We report here the molecular basis associated with Be a antigen expression. Materials and Methods Peripheral blood samples from four Be(a+) probands were tested. Haemagglutination, gDNA extraction, PCR‐based assays, reticulocyte RNA isolation, Rh‐cDNA analyses, and sequencing were performed by standard procedures. Results RBCs from Probands 1 and 3 were D−C−E−c+e+, and from Probands 2 and 4 were D+C+E−c+ W e+. In proband 1, cDNA sequencing of RHCE revealed heterozygosity of nucleotide (nt) 662C/G in exon 5 of RHCE*ce . No other nucleotide changes were observed. As the 662C>G nucleotide change ablates a Msc I restriction enzyme cleavage site, PCR–RFLP analysis was performed and the RHCE*ce nt 662C/G heterozygosity was detected on gDNA from the four probands and two children from both Proband 3 and Proband 4. Conclusion The low prevalence Rh antigen, Be a , is associated with a single nucleotide change in exon 5 of RHCE*ce ; that of 662C>G and this change is predicted to alter proline at amino acid position 221 of Rhce to arginine. The fundamental differences in the properties of these two amino acids may impose a steric and/or charge‐related effect on the protein, and thereby provide an explanation for the weakened expression of c, e and f (ce) antigens in the Be a phenotype.