在RHAG中,一种新的无意义变体是北欧Rhnull表型的基础
Åsa Hellberg1, Mirjana Grujic Arsenovic2, Ingvild Hausberg Sørvoll2
1Department of Clinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Sweden.
Vox sanguinis
|June 2, 2023
概括
在四个具有罕见Rh血型表型的个体中发现了一种新的北欧Rhnull等位基因. 这一发现揭示了对Rhnull红细胞的遗传基础及其改变的抗原表达的新见解.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 缺少所有Rh抗原的Rhnull表型非常罕见,具有调节器和无形类型.
- 调节器类型涉及RHAG变异影响RhD/RhCE表达并改变糖B和LW糖蛋白表达.
研究的目的:
- 在四个无关联个体中调查Rhnull表型的遗传基础.
- 描述Rhnull红细胞的血清学和分子特征.
主要方法:
- 血清检测和扩展红细胞抗原类型测试.
- 聚合酶链反应 (PCR) 基因定型用于RHD/RHCE和S/s等位基因.
- 对RHAG和RHD/RHCE基因进行测序.
主要成果:
- 这四个人都有抗Rh29抗体.
- 序列分析在所有样本中发现了RHAG 6内中的新变异 (c.946 -2a>g).
- RHD/RHCE基因没有改变;s+ Rhnull红细胞表现出改变的s抗原表达.
结论:
- 发现了一种新的北欧Rhnull等位基因.
- 具有s+表型的Rhnull红细胞在s抗原表达中表现出质量变化,并且是U-.
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