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使用目标长读序列的RHD-RHCE参考序列的等位基因编目

Junhyup Song¹, Soon Sung Kwon¹, Eun Jung Suh¹

¹Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Clinical chemistry

|August 12, 2025

概括

高准确度的长读测序准确地表征了RHD-RHCE等位基因,揭示了它们的进化起源,并改善了血型基因组定型. 这种系统的方法通过澄清复杂的Rh抗原变异来增强输血医学.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
免疫学免疫学免疫学

背景情况:

血型基因组定型对于输血医学至关重要,但受到复杂的Rh抗原遗传学的挑战.
RHD和RHCE基因之间的高序列同样性使准确的基因类型复杂化.
需要系统地描述RHD-RHCE区域中的分子变异.

研究的目的:

使用先进的测序系统地描述RHD-RHCE区域中的分子变异.
通过了解Rh抗原表达来提高血型基因组定型的准确性.
为了阐明RHD-RHCE等位基因的进化关系.

主要方法:

63个个体的RHD-RHCE区域的定制目标丰富和高保真 (HiFi) 长读序列.
与GRCh38对齐,变体识别,分阶段和生成等位基基参考序列.
遗传学分析用于分类等位基并了解进化模式.

主要成果:

能够分相远距离的异合体变体,并精确地表征结构和联重复变体.
在76.2%的样本中实现了完全相位分辨率,产生了96个等位基因参考序列.
识别了由RHD到RHCE跨越的系遗传分类中的特征序列模式.

结论:

欧亚RHD-RHCE的等位基池起源于两个不同的血统,通过重组形成.
将RHD和RHCE视为一个单一的进化单元,为分子类型化提供了优势.
这种系统的表征增强了对输血医学Rh单元型多样性的理解.

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