Clin Lab. 2023 Oct 1;69(10). doi: 10.7754/Clin.Lab.2023.230411.
The RH blood group system is the most complex with over 50 antigens. So far over hundreds of RhCE variant alleles have been described resulting in weakened and/or partial expression of RhCE antigens [1], some variant Rh phenotypes are caused by exchange of genetic material between the RHD and RHCE genes, resulting in many hybrid genes, other phenotypes result from missense mutations. Variant alleles encode altered phenotypes with either weakened antigens, lacked antigens, or unexpected antigens. Besides, the mutation of RH blood group genes may lead to the changes of Rh antigen epitopes. RHCE gene mutations or polymorphisms may bring about altered RH antigens in quality and quantity [2]. Serologic weaknesses or discrepancies are regularly faced by blood transfusion laboratories, and molecular background explaining this feature can be precisely characterized only by the molecular biological methods.
RH 血型系统是最复杂的，包含超过 50 种抗原。到目前为止，已经描述了数百种 RhCE 变异等位基因，导致 RhCE 抗原的表达减弱和/或部分缺失[1]，一些变异 Rh 表型是由于 RHD 和 RHCE 基因之间遗传物质的交换引起的，导致许多杂交基因，其他表型则是由于错义突变引起的。变异等位基因编码改变的表型，表现为抗原减弱、缺乏抗原或出现意外抗原。此外，RH 血型基因的突变可能导致 Rh 抗原表位的改变。RHCE 基因突变或多态性可能导致 RH 抗原在质量和数量上发生改变[2]。血液学实验室经常会遇到 RH 血型抗原的血清学弱点或差异，只有通过分子生物学方法才能精确描述解释这种特征的分子生物学背景。
