在非阻塞性和阻塞性亚精子症中,使用下一代测序对丸精子进行单精子胆型定型
Sumiko Sueyoshi1,2, Akifumi Ijuin1, Hiroe Ueno1
1Center for Reproductive Medicine, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan.
PloS one
|December 5, 2025
概括
精子染色体异常在非阻塞性精子缺血症 (NOA) 中很常见,即使在选择生育治疗后也是如此. 单个精子测序可以识别NOA患者,这些患者可能会受益于前植入前遗传测试 (PGT-A).
科学领域:
- 生殖医学 生殖医学
- 人类遗传学 人类遗传学
- 基因组学就是基因组学.
背景情况:
- 与肥沃男性相比,不孕男性的精子染色体异常率较高.
- 丸精子提取与细胞内注射精子 (TESE-ICSI) 与流产率的增加有关,据推测是由于精子无倍积分.
- 之前的精子型化研究范围有限,仅通过光 in situ 杂交检查选定的染色体.
研究的目的:
- 在所有染色体上使用下一代测序 (NGS) 对精子型的全面分析.
- 评估经过TESE-ICSI的患者临床可用的丸精子中的精子染色体异常.
- 为了比较不育男性 (阻塞性亚精子症[OA]和非阻塞性亚精子症[NOA]) 和生育对照之间的精子类型测定结果.
主要方法:
- 从OA和NOA患者收集了TESE-ICSI后丢弃的精子和个别微处理的精子.
- 在对照,平衡转位 (BT) 载体,OA和NOA组的样本上使用NGS进行单个精子胆型定型.
- 分析了每个患者的十个精子样本,比较正常和异常精子的数量.
主要成果:
- 整体单个精子类型化获取率为85%.
- 来自BT携带者的精子显示出由于转位而导致的染色体不平衡.
- 在NOA组的17% (7/41) 样本中发现了异常的精子型,但在对照组或OA组中没有. 在NOA患者中观察到异常频率的显著个体变化.
结论:
- 精子染色体异常在NOA患者中很普遍,即使在精子被选择用于临床使用后也会持续存在.
- 异常的可变频率表明,单个精子测序可以帮助识别NOA患者,这些患者可能受益于前植入前遗传测试 (PGT-A).
- 这种详细的型化方法提供了更彻底的了解不孕症中的精子形积分.
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