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中华临床医师杂志(电子版) ›› 2025, Vol. 19 ›› Issue (12) : 945 -950. doi: 10.3877/cma.j.issn.1674-0785.2025.12.010

综述

单细胞RNA测序技术在再生障碍性贫血中的应用研究进展
倪美铃1, 周芳2,()   
  1. 1 261053 山东潍坊,山东第二医科大学临床医学院
    2 250031 山东济南,解放军联勤保障部队第九六〇医院血液病科
  • 收稿日期:2025-11-25 出版日期:2025-12-30
  • 通信作者: 周芳
  • 基金资助:
    山东省医药卫生科技项目(202303041667)

Applications of single-cell RNA sequencing technology in studying aplastic anemia

Meiling Ni1, Fang Zhou2,()   

  1. 1 School of Clinical Medicine, Shandong Second Medical University, Weifang 261053, China
    2 Department of Hematology, The 960th Hospital of The People's Liberation Army (PLA) Joint Logistics Support Force, Jinan 250031, China
  • Received:2025-11-25 Published:2025-12-30
  • Corresponding author: Fang Zhou
引用本文:

倪美铃, 周芳. 单细胞RNA测序技术在再生障碍性贫血中的应用研究进展[J/OL]. 中华临床医师杂志(电子版), 2025, 19(12): 945-950.

Meiling Ni, Fang Zhou. Applications of single-cell RNA sequencing technology in studying aplastic anemia[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2025, 19(12): 945-950.

再生障碍性贫血是一种免疫介导的造血衰竭疾病,其特征是外周血全血细胞减少和无异常增生或纤维化的骨髓细胞减少。主要以贫血、出血、感染为主要临床表现。其发病率和死亡率都很高。因此,对AA的发病机制进行研究有利于在AA诊断时或治疗后确定新的潜在治疗靶点。单细胞RNA测序(scRNA-seq)技术克服了传统测序检测细胞群平均转录水平的缺点,可以在单个细胞的分辨率上精确检测转录组。相比常规检测方法,scRNA-seq技术能够评估细胞群体之间的异质性,并构建每个细胞的基因表达图谱,有助于阐明参与细胞间串扰的复杂分子网络。文章基于单细胞RNA常见测序平台优缺点,对单细胞测序技术在再生障碍性贫血中的应用做一综述。

Aplastic anemia (AA) is an immune-mediated hematopoietic failure disease, characterized by pancytopenia in peripheral blood and hypocellular bone marrow without abnormal hyperplasia or fibrosis. Its main clinical manifestations are anemia, bleeding, and infection, and both its incidence and mortality rates are notably high. Investigating the pathogenesis of AA is therefore crucial for identifying potential therapeutic targets at diagnosis or after treatment. Single-cell RNA sequencing (scRNA-seq) technology overcomes the limitation of traditional sequencing, which captures only average transcriptional levels acorss cell populations, by enabling precise transcriptome profiling at single-cell resolution. In contrast to conventional detection methods, scRNA-seq can assess heterogeneity within cell populations and construct gene expression maps for individual cells, thereby helping to elucidate the complex molecular networks underlying intercellular crosstalk. Considering the strengths and limitations of commonly used scRNA-seq platforms, this article reviews the applications of scRNA-seq technology in studying AA.

表1 各测序平台总结
图1 (By Figdraw)通过单细胞RNA测序技术发现介导AA发生的异常细胞及细胞因子总结示意图。图中箭头表示促进作用,平头表示抑制作用。示意图分为三部分,上图为AA患者骨髓T细胞及其相关细胞因子介导骨髓衰竭示意图。左下图为B细胞受体(BCR)多样性和配对频率。右下图为在AA小鼠模型中的发现。
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