鉴定了一种新的RHCE*Ce (829G>A) 基因,与C和e抗原表达缺失相关
Ci Xuan1,2, Fan Xinxin1, Lv Piao1
1Department of Transfusion Medicine, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Transfusion medicine (Oxford, England)
|August 1, 2024
概括
在一名中国患者身上发现了一种新的RHCE*Ce等位基因变异 (c.829G>A),导致C和e抗原较弱或不存在. 这一发现影响了Rh血型抗原表达和输入精度.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 免疫学 免疫学 免疫学
背景情况:
- 由RHD和RHCE基因编码的Rh血型系统,由于基因同质性而表现出高的多态性.
- Rh 基因变异会导致抗原表达缺失或减弱,从而使血型鉴定复杂化.
研究的目的:
- 为了调查一个中国患者的RhCE类型的差异.
- 为了识别新的RHCE变异及其对RhCE蛋白功能的影响.
主要方法:
- 使用了聚合酶链反应序列特异性原始剂 (PCR-SSP) 和RhCE表型化.
- 通过PacBio测序分析了完整的RHCE,RHD和RHAG基因序列.
- 进行了3D分子建模和蛋白质功能预测 (PolyPhen-2).
主要成果:
- 在一个具有ccEE表型的中国汉族男性中,发现了一种具有c.829G>A (p.Gly277Arg) 变异的新型RHCE*Ce基因.
- 突变位于RhCE蛋白的第九个跨膜段.
- 3D建模表明,这种替代改变了蛋白质的结构和功能,预测是有害的.
结论:
- 发现了一种携带c.829G>A (p.Gly277Arg) 变异的新型RHCE*Ce等位基因.
- 这种变异与C和e抗原的缺失或弱表达有关.
- 这些发现有助于理解Rh基因多态化及其临床影响.
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