Abstract:
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 MscI 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.
journal_name
Vox Sangjournal_title
Vox sanguinisauthors
Hue-Roye K,O'Shea K,Gillett R,Wadsworth LD,Hume H,Barnes J,Kinney J,Hodgins K,Fuchisawa A,Lomas-Francis C,Reid Mdoi
10.1111/j.1423-0410.2009.01277.xsubject
Has Abstractpub_date
2010-04-01 00:00:00pages
e263-8issue
3 Pt 1eissn
0042-9007issn
1423-0410pii
VOX1277journal_volume
98pub_type
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