PDF(Pubmed)
Abstract：
Immunohematology laboratories are regularly facing transfusion issues due to serological weaknesses. Altered (partial) RH antigens account for most of them. In some situations, RHCE variant alleles are involved. Herein we present our three-step molecular exploration, with allele frequencies, that has efficiently untangled RH2 phenotype weaknesses and discrepancies in our 2017-2021 cohort. In the last 5 years, the PACA Corse EFS molecular platform received 265 samples from healthy blood donors or patients with C and C/e typing difficulties. The first-intention technique (DNA array and real time PCR for RHCE*CeRN research) detected RHCE variant alleles in 143 cases (54%). The RHCE alleles classically found in African populations were the most frequent, with RHCE*CeRN allele in 40 cases (15%) and (C)ces haplotype type 1 and 2 in 26 cases (10%). A \"CE\" effect haplotype was suspected in 56 cases, due to the uncommon DCE haplotype that may explain the low C expression. When there were no RHCE*Ce or RHCE*CE alleles, we then searched for RHD polymorphisms by DNA array. We detected the RHD*DAU5 and RHD*DIVa in 18 and 7 cases respectively, suggesting that C ambiguity is related to the presence of these alleles which has never been described with DAU5. If no variant RHCE and RHD alleles were detected, we finally sequenced the 10 exons of both RHCE and RHD genes according to the clinical context and found seven new RHCE alleles. Thus, this molecular strategy would improve the knowledge of RHCE variants\' expression and, thus, optimize the transfusion management.
摘要：
由于血清学上的弱点，免疫血液学实验室经常面临输血问题。改变的（部分）RH抗原占大多数。在某些情况下,涉及RHCE变体等位基因。在这里，我们介绍了我们的三步分子探索，等位基因频率，这有效地解决了我们2017-2021年队列中RH2表型的弱点和差异。在过去的5年里,PACACorseEFS分子平台接受了来自健康献血者或C和C/e分型困难患者的265份样本.第一意图技术(RHCE*CeRN研究的DNA阵列和实时PCR)检测到143例(54%)的RHCE变异等位基因。典型地在非洲人群中发现的RHCE等位基因是最常见的，RHCE*CeRN等位基因40例（15％），（C）ces单倍型1型和2型26例（10％）。56例怀疑“CE”效应单倍型，由于不常见的DCE单倍型，可以解释低C表达。当没有RHCE*Ce或RHCE*CE等位基因时，然后我们通过DNA阵列搜索RHD多态性。我们分别在18例和7例中检测到RHD*DAU5和RHD*DIVa，这表明C歧义与这些从未用DAU5描述过的等位基因的存在有关。如果没有检测到变异RHCE和RHD等位基因，我们最终根据临床背景对RHCE和RHD基因的10个外显子进行了测序，发现了7个新的RHCE等位基因。因此，这种分子策略将提高RHCE变体表达的知识，因此，优化输血管理。
