Accuracy of RHC/c genotyping in Chinese Han population.

IF 1.5 4区医学 Q3 HEMATOLOGY

Transfusion Medicine Pub Date : 2024-08-01 Epub Date: 2024-05-29 DOI:10.1111/tme.13056

Shihang Zhou, Ming Liu, Linnan Shao, Wenqian Song, Liying Wang, Yaxin Fan

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引用次数: 0

Abstract

Background and objectives: 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.

Materials and 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.

Conclusion: 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.

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中国汉族人群中 RHC/c 基因分型的准确性。

背景和目的：RHCE 基因在复杂多态的 Rh 血型系统中发挥着重要作用。RHCE 基因分型具有重要的临床和输血意义。本研究旨在评估中国汉族人群中 RHC/c 基因分型的准确性：材料和方法：653 名中国汉族献血者的血样。采用单克隆抗体测定血清学 RhD 和 RhCcEe 血型。随后，对 RHC 和 RHc 基因分型进行了多重实时聚合酶链反应（PCR）分析。此外，还对 RHCE 的 2 号外显子和 RHD 的 1 号外显子进行了测序：结果：本研究的分析结果显示，RhD 阳性供体为 443 例，RhD 阴性供体为 210 例。在总共 653 名供体中，有 37 人的 RHC 基因分型结果与血清学结果不一致。具体来说，根据 RHCE 外显子 1 中的 c.48C，在 RhD 阳性供体中发现了 6 个 RhC 假阳性结果，在 RhD 阴性供体中发现了 28 个 RhC 假阳性结果。此外，由于 RHCE 内含子 2 中的 109 bp 插入，在 RhD 阳性供体中观察到 3 个 RhC 假阴性结果。RHc 分型结果显示，实时 PCR 与血清学结果完全一致：结论：在中国汉族人群中，基于 c.48C 和基于 109 bp 插入基因分型的结果一致时，RHC 基因分型是可靠的。此外，基于 c.203A 和 c.307C 多态位点的 RHc 基因分型也表现出可靠的性能。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Transfusion Medicine 医学-血液学

CiteScore

2.70

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Transfusion Medicine publishes articles on transfusion medicine in its widest context, including blood transfusion practice (blood procurement, pharmaceutical, clinical, scientific, computing and documentary aspects), immunohaematology, immunogenetics, histocompatibility, medico-legal applications, and related molecular biology and biotechnology. In addition to original articles, which may include brief communications and case reports, the journal contains a regular educational section (based on invited reviews and state-of-the-art reports), technical section (including quality assurance and current practice guidelines), leading articles, letters to the editor, occasional historical articles and signed book reviews. Some lectures from Society meetings that are likely to be of general interest to readers of the Journal may be published at the discretion of the Editor and subject to the availability of space in the Journal.