分子生物学
抗原
生物
等位基因
基因型
遗传学
抗体
基因座(遗传学)
基因
作者
Christine Halter Hipsky,Christine Lomas-Francis,Akiko Fuchisawa,Marion E. Reid,Marilyn Moulds,JoAnn Christensen,Pam Nickle,Sunitha Vege,Connie M. Westhoff
出处
期刊:Transfusion
[Wiley]
日期:2011-01-01
卷期号:51 (1): 25-31
被引量:29
标识
DOI:10.1111/j.1537-2995.2010.02764.x
摘要
BACKGROUND: RH43 (Crawford) is encoded by RHCE*ce with nucleotide changes 48G>C, 697C>G, and 733C>G (RHCE*ceCF). We investigated the Rh antigen expression and antibody specificities in four patients with this allele. STUDY DESIGN AND METHODS: Hemagglutination tests, DNA extraction, polymerase chain reaction (PCR)-restriction fragment length polymorphism, allele-specific PCR, reticulocyte RNA isolation, reverse transcription-PCR cDNA analyses, cloning, and sequencing were performed by standard procedures. RESULTS: Red blood cells (RBCs) from two patients typed D+C−E−c+e+/−, hrS−/+W, hrB− and their serum was reactive (3+) with all RBC samples of common Rh phenotype tested, but nonreactive with Rhnull or D−– RBCs (apparent alloanti-Rh17). At the RHCE locus, Patient 1 was homozygous for RHCE*ceCF, and Patient 2 inherited RHCE*ceCF in trans to a silenced RHCE*cE. Cross-testing of serum and RBCs from these two samples showed mutual compatibility, indicating that both antibodies define the same novel high-prevalence antigen on Rhce. Two additional patients, one whose serum contained alloanti-c but the RBCs typed C+c+ and one whose serum contained anti-e but the RBCs typed E+e+, also had RHCE*ceCF. RHCE*Ce was present in trans in the former and RHCE*cE in the latter patient. CONCLUSION: We report that amino acid changes on RhceCF (Trp16Cys, Gln233Glu, and Leu245Val) alter the protein to the extent that c and e antigens are partial, and a high-prevalence antigen, we have named CELO (provisional ISBT Number 004058; RH58) is not expressed. CELO is antithetical to RH43 (Crawford).
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