在血清学D阴性泰国患者中分析RHD变体等位基因:流行率和新发现
Thunnakhon Sinwatcharaphirom1, Pattarin Tangtanatakul2,3, Tuangrat Kumar4
1Philosophy in Medical Sciences Program, Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Transfusion
|January 26, 2026
概括
在血清性D阴性泰国患者中检测RHD变体等位基因至关重要. 聚合酶链反应 (PCR) 和桑格测序对于亚洲DEL是有效的,但吸附/脱离对于血液管理是不可靠的.
科学领域:
- 血型遗传学 血型遗传学
- 分子诊断学 分子诊断学
- 人口遗传学 人口遗传学
背景情况:
- 在泰国,D阴性献血者很少见 (0.3%).
- 亚洲DEL个体是D-血清阴性,但可以在没有Alloimmunization的情况下接受D-阳性血液.
- 准确的查方法是需要的血清学D阴性泰国患者与RHD变体等位基因.
研究的目的:
- 在血清D阴性泰国患者中确定RHD变体等位基因的有效查方法.
- 评估不同基因分析技术的可靠性.
- 为改善该群体的血液管理策略.
主要方法:
- 分析血清D阴性血液样本,使用对DEL表型的吸附/脱离方法.
- 聚合酶连锁反应 (PCR) 和桑格测序用于RHD外子4和RHD1227A.
- 全基因组测序 (WGS) 对于不确定的结果和使用删除跨越PCR的RHD/RHCE变异的确认.
主要成果:
- 在80名患者中,RHD基因删除 (71.3%),亚洲DEL半双重性 (25.0%) 和新型遗传变异 (2.5%) 被确定.
- 两种新的RHD变体 (c.441delG p.V147fs) 导致截断的蛋白质,血清学显示D阴性.
- 吸附/脱离试验显示,亚洲DEL的虚假阳性 (34.8%) 和虚假阴性 (9.4%) 率显著.
结论:
- PCR和桑格测序对于在血清D阴性泰国患者中识别亚洲DEL非常有价值.
- 吸附/疏散是DEL表型确定的一种不可靠的方法.
- WGS对于识别罕见变异很有用,但对于常规亚洲人口查来说不具有成本效益.
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