基因型分析以澄清智利人口不同样本中的RhD变异
Andrés Aburto1, Diego Zapata1, Eduardo Retamales1
1Sección Hematología e Inmunohematología, Departamento Laboratorio Biomédico Nacional y de Referencia, Instituto de Salud Pública de Chile, Santiago, Chile.
Frontiers in immunology
|December 20, 2023
概括
分子测试在69.3%的智利血样中发现了D抗原变体,血清学差异存在. 最常见的变体是RHD*DEL43和弱型2,与ccDEe表型相关.
科学领域:
- 输血医学 输血医学
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
背景情况:
- D抗原变体 (弱,部分,极弱/DEL) 需要分子测试才能准确分类.
- 智利的血液中心将D抗原变体的鉴定转移到参考实验室.
- D抗原的血清分类可能存在差异.
研究的目的:
- 报告D抗原变体的分子分析结果.
- 为了研究具有不同血清分类的样本.
- 在智利人群中对D抗原变体进行表征.
主要方法:
- 使用单克隆抗血清和列聚合的血清学表型化.
- 分子分析包括使用序列特异性原始剂 (SSP-PCR) 和测序的聚合酶链反应.
- 分析了479个样本,最初的血清学差异.
主要成果:
- 在332个样本中 (69.3%) 确认了D抗原变异,但最初存在差异.
- 变异的频率包括弱RhD (66%),极弱RhD (28%),和部分RhD (6%).
- RHD*DEL43 (28%) 和弱型2 (27.4%) 是最常见的变体,通常与ccEe (R2r) 现型相关.
结论:
- 这项研究首次描述了智利的D抗原变体.
- 最常见的变体是DEL型 (RHD*DEL43) 和弱型2,与ccDEe表型相关.
- 这些变异的特征对于管理献血者,患者和孕妇至关重要.
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