Laboratories of Immunohematology and Immunochemistry, New York Blood Center, New York, New York 10065, USA.
Transfusion. 2011 Jan;51(1):25-31. doi: 10.1111/j.1537-2995.2010.02764.x.
RH43 (Crawford) is encoded by RHCEce with nucleotide changes 48G>C, 697C>G, and 733C>G (RHCEceCF). We investigated the Rh antigen expression and antibody specificities in four patients with this allele.
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.
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 RHCEceCF, and Patient 2 inherited RHCEceCF in trans to a silenced RHCEcE. 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 RHCEceCF. RHCECe was present in trans in the former and RHCEcE in the latter patient.
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).
RH43(克劳福德)由 RHCEce 编码,其核苷酸变化为 48G>C、697C>G 和 733C>G(RHCEceCF)。我们研究了具有该等位基因的四位患者的 Rh 抗原表达和抗体特异性。
通过标准程序进行血凝试验、DNA 提取、聚合酶链反应(PCR)-限制性片段长度多态性、等位基因特异性 PCR、网织红细胞 RNA 分离、逆转录-PCR cDNA 分析、克隆和测序。
两位患者的红细胞(RBC)分别为 D+C-E-c+e+/-, hrS-/+W, hrB-,其血清与所有常见 Rh 表型测试的 RBC 样本反应(3+),但与 Rhnull 或 D-- RBC 不反应(明显的 alloanti-Rh17)。在 RHCE 基因座上,患者 1 为 RHCEceCF 纯合子,患者 2 为 RHCEceCF 杂合子,沉默的 RHCEcE。这两个样本的血清和 RBC 的交叉测试显示出相互兼容性,表明两种抗体都定义了 Rhce 上相同的新型高流行抗原。另外两名患者,一名血清中含有 alloanti-c,但 RBC 型为 C+c+,另一名血清中含有抗-e,但 RBC 型为 E+e+,也具有 RHCEceCF。前者的 RHCECe 为 trans,后者的 RHCEcE 为 trans。
我们报告称,RhceCF 上的氨基酸变化(Trp16Cys、Gln233Glu 和 Leu245Val)使蛋白质发生改变,以致 c 和 e 抗原部分缺失,一种高流行抗原,我们将其命名为 CELO(暂定 ISBT 编号 004058;RH58)不表达。CELO 与 RH43(克劳福德)相反。