Abstract：
OBJECTIVE: The RHCE gene plays an important role in the complex and polymorphic Rh blood group system. RHCE genotyping holds significant clinical and transfusion-related implications. The objective of this study was to evaluate the accuracy of RHC/c genotyping in the Chinese Han population.
METHODS: Blood samples were obtained from 653 Chinese Han blood donors. The serological RhD and RhCcEe types were determined using monoclonal antibodies. Subsequently, multiplex real-time polymerase chain reaction (PCR) analysis was performed for RHC and RHc genotyping. Additionally, exon 2 of RHCE and exon 1 of RHD were sequenced.
RESULTS: The analysis in this study found 443 RhD-positive donors and 210 RhD-negative donors. Among the 653 total donors, discrepancies between the RHC genotyping results and the serological results were found in 37 individuals. Specifically, 6 false-positive RhC results in RhD-positive donors and 28 false-positive RhC results in RhD-negative donors were identified based on c.48C in RHCE exon 1. Additionally, 3 false-negative RhC results were observed in the RhD-positive donors due to a 109 bp insertion in RHCE intron 2. RHc typing demonstrated complete consistency between the real-time PCR and the serological results.
CONCLUSIONS: In the Chinese Han population, RHC genotyping was reliable when consistent results were achieved by both c.48C-based and 109 bp insertion-based genotyping. Moreover, RHc genotyping based on c.203A and c.307C polymorphic loci demonstrated dependable performance.
METHODS: Blood samples were obtained from 653 Chinese Han blood donors. The serological RhD and RhCcEe types were determined using monoclonal antibodies. Subsequently, multiplex real-time polymerase chain reaction (PCR) analysis was performed for RHC and RHc genotyping. Additionally, exon 2 of RHCE and exon 1 of RHD were sequenced.
RESULTS: The analysis in this study found 443 RhD-positive donors and 210 RhD-negative donors. Among the 653 total donors, discrepancies between the RHC genotyping results and the serological results were found in 37 individuals. Specifically, 6 false-positive RhC results in RhD-positive donors and 28 false-positive RhC results in RhD-negative donors were identified based on c.48C in RHCE exon 1. Additionally, 3 false-negative RhC results were observed in the RhD-positive donors due to a 109 bp insertion in RHCE intron 2. RHc typing demonstrated complete consistency between the real-time PCR and the serological results.
CONCLUSIONS: In the Chinese Han population, RHC genotyping was reliable when consistent results were achieved by both c.48C-based and 109 bp insertion-based genotyping. Moreover, RHc genotyping based on c.203A and c.307C polymorphic loci demonstrated dependable performance.
摘要：
目的：RHCE基因在复杂和多态的Rh血型系统中起着重要作用。RHCE基因分型具有重要的临床和输血相关意义。本研究的目的是评估RHC/c基因分型在中国汉族人群中的准确性。
方法：从653名中国汉族献血者中采集血样。使用单克隆抗体确定血清学RhD和RhCcEe类型。随后，对RHC和RHc基因分型进行多重实时聚合酶链反应(PCR)分析。此外,对RHCE的外显子2和RHD的外显子1进行测序。
结果：本研究中的分析发现443个RhD阳性供体和210个RhD阴性供体。在653个捐助者中，在37个个体中发现RHC基因分型结果与血清学结果之间存在差异。具体来说,基于RHCE外显子1中的c.48C鉴定了RhD阳性供体中的6个假阳性RhC结果和RhD阴性供体中的28个假阳性RhC结果。此外,由于在RHCE内含子2中插入109bp,在RhD阳性供体中观察到3个假阴性RhC结果。RHc分型证明了实时PCR和血清学结果之间的完全一致。
结论：在中国汉族人群中，当基于c.48C和基于109bp插入的基因分型获得一致的结果时，RHC基因分型是可靠的。此外，基于c.203A和c.307C多态性位点的RHc基因分型显示出可靠的性能。
方法：从653名中国汉族献血者中采集血样。使用单克隆抗体确定血清学RhD和RhCcEe类型。随后，对RHC和RHc基因分型进行多重实时聚合酶链反应(PCR)分析。此外,对RHCE的外显子2和RHD的外显子1进行测序。
结果：本研究中的分析发现443个RhD阳性供体和210个RhD阴性供体。在653个捐助者中，在37个个体中发现RHC基因分型结果与血清学结果之间存在差异。具体来说,基于RHCE外显子1中的c.48C鉴定了RhD阳性供体中的6个假阳性RhC结果和RhD阴性供体中的28个假阳性RhC结果。此外,由于在RHCE内含子2中插入109bp,在RhD阳性供体中观察到3个假阴性RhC结果。RHc分型证明了实时PCR和血清学结果之间的完全一致。
结论：在中国汉族人群中，当基于c.48C和基于109bp插入的基因分型获得一致的结果时，RHC基因分型是可靠的。此外，基于c.203A和c.307C多态性位点的RHc基因分型显示出可靠的性能。
