Ong J, Walker P S, Schmulbach E, Storry J R, Vege S, Westhoff C, Lomas-Francis C, Reid M E
Blood Centers of the Pacific, San Francisco, CA, USA.
Vox Sang. 2009 Apr;96(3):240-3. doi: 10.1111/j.1423-0410.2008.01135.x. Epub 2008 Dec 5.
In the Rh blood group system, partial D, C, and e antigens are well-known, but a partial c antigen resulting in the production of alloanti-c in a c+ individual is rare. One example of an alloanti-c in a c+ person was an anti-Rh26, which can appear as anti-c, and another was an alloanti-c in a c+ person with a presumed R(1)r phenotype. The finding of an apparent alloanti-c in a transfused c+ patient initiated this investigation.
Haemagglutination tests, DNA extraction, polymerase chain reaction (PCR)-based assays (PCR-restriction fragment length polymorphism, allele-specific PCR), reticulocyte mRNA extraction, reverse transcriptase (RT)-PCR and sequencing were performed by standard procedures.
Plasma from a 64-year-old African American woman with a wound infection following a mastectomy contained anti-E, anti-S, anti-K, anti-Fy(a) and anti-Jk(b), reacting by the indirect antiglobulin test. In addition, the patient's plasma gave reactions that were consistent with an anti-c, while her pre-transfusion red blood cells typed c+ with some anti-c reagents. These results are consistent with a partial c antigen. The patient's red blood cells also typed V+(W)VS- and JAL+. Analyses of DNA and Rh-transcripts from this patient showed the presence of the following genes: RHDD, RHDDAU0, RHCECe and RHCEce(S)(340).
The nucleotide 340C>T change in RHCE exon 3 (predicted to encode 114Trp) of the RHCEce(S)(340) allele is associated with a JAL+ phenotype and the altered expression of the c, V and VS antigens. This alteration in the c antigen allowed the patient to make an alloanti-c. This case reveals that the RHCEce(S)(340) allele encodes a partial c antigen.
在Rh血型系统中,部分D、C和e抗原广为人知,但c+个体中产生同种抗 - c的部分c抗原罕见。c+个体中出现同种抗 - c的一个例子是抗 - Rh26,其可表现为抗 - c,另一个例子是具有假定R(1)r表型的c+个体中的同种抗 - c。在一名接受输血的c+患者中发现明显的同种抗 - c引发了本研究。
采用标准程序进行血凝试验、DNA提取、基于聚合酶链反应(PCR)的检测(PCR - 限制性片段长度多态性、等位基因特异性PCR)、网织红细胞mRNA提取、逆转录酶(RT) - PCR和测序。
一名64岁非洲裔美国女性在乳房切除术后发生伤口感染,其血浆中含有抗 - E、抗 - S、抗 - K、抗 - Fy(a)和抗 - Jk(b),通过间接抗球蛋白试验发生反应。此外,患者血浆产生的反应与抗 - c一致,而其输血前红细胞与一些抗 - c试剂反应呈c+型。这些结果与部分c抗原一致。患者的红细胞还呈V+(W)VS - 和JAL+型。对该患者的DNA和Rh转录本分析显示存在以下基因:RHDD、RHDDAU0、RHCECe和RHCEce(S)(340)。
RHCEce(S)(340)等位基因的RHCE外显子3中核苷酸340C>T变化(预测编码114Trp)与JAL+表型以及c、V和VS抗原表达改变相关。c抗原的这种改变使患者产生了同种抗 - c。该病例揭示了RHCEce(S)(340)等位基因编码部分c抗原。