单细胞多基因组测序揭示了在螺旋转移后重组的人类胚胎中,肌体和细胞内质量之间的染色体复制数不一致
Wei Zhong1,2, Kexin Shen1,2, Xiaohui Xue3
1School of Medicine, South China University of Technology, Guangzhou, China.
Human reproduction (Oxford, England)
|September 28, 2023
概括
来自螺旋转移 (ST) 胚胎的托菲克托德姆 (TE) 活检不能准确地表示细胞内部质量 (ICM) 染色体复制号. 这一发现表明,与传统的ICSI胚胎相比,ST胚胎的前植入基因检测 (PGT-A) 可能对ST胚胎的可靠性较低.
科学领域:
- 生殖生物学 生殖生物学
- 遗传学 是一个遗传学.
- 胚胎学 胚胎学
背景情况:
- 预植入基因测试 (PGT-A) 依赖于表皮组织活检,代表细胞内质量 (ICM) 和染色体复制号码.
- TE和ICM之间的一致性尚未确立,特别是在通过螺旋转移 (ST) 创建的胚胎中.
- TE和ICM起源于不同的细胞系,这引发了关于TE代表性的问题.
研究的目的:
- 调查ST后的人类复制胚胎中TE的染色体拷贝数是否代表ICM.
- 为了比较ST和常规细胞内精子注射 (ICSI) 胚胎中TE和ICM之间的染色体一致性.
主要方法:
- 在45个人类胚胎囊 (23个ST,22个ICSI) 上进行了单细胞多奥米克测序.
- 在单个细胞中预测和验证了副本数变异 (CNVs).
- 通过分析异常细胞的比例来确定染色体拷贝数;使用布兰德-阿尔特曼和卡帕测试来评估一致性.
主要成果:
- 与ICSI胚芽细胞相比,ST胚芽细胞表现出更高比例的马赛克主义.
- 在ICSI胚胎囊中观察到TE和ICM之间的良好染色体一致性 (Kappa = 0.659).
- 在ST胚芽细胞中没有发现TE和ICM之间的显著染色体一致性 (P = 1.000),表明TE在这些胚胎中不代表ICM.
结论:
- ST芽细胞的TE不能准确地表示ICM的染色体拷贝数.
- 对于ST胚胎,PGT-A可能不那么可靠,原因是增加了马赛克和缺乏TE-ICM一致性.
- 这些发现支持PGT-A对ICSI胚胎的研究,但强调了ST技术未来临床应用的潜在局限性.
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