受精失败和早期胚胎停产的遗传机制:一个全面的审查
Yiqiu Wei1, Jingxuan Wang1, Rui Qu1
1Reproductive Medical Center, Renmin Hospital of Wuhan University, Wuhan, China.
Human reproduction update
|September 27, 2023
概括
遗传因素显著影响受精失败和早期胚胎停产. 了解这些遗传机制有助于开发有针对性的治疗方法并改善生殖结果.
科学领域:
- 生殖生物学 生殖生物学
- 人类遗传学 人类遗传学
- 发展生物学 发展生物学
背景情况:
- 不孕不育和流产是很大的挑战,往往源于受精和早期胚胎发育的问题.
- 遗传和表观遗传因素在人类繁殖的每个阶段都起着至关重要的作用,破坏导致受精失败 (FF) 和早期胚胎停产 (EEA).
- 先进的遗传技术为研究人类生殖细胞和生殖发育提供了新的途径,旨在揭示FF和EEA背后的机制.
研究的目的:
- 审查有关FF和EEA的当前遗传知识.
- 阐明潜在的遗传和表观遗传机制.
- 为临床诊断和治疗策略提供见解.
主要方法:
- 在PubMed的综合文献搜索中搜索英语文章 (1978-2023年).
- 关键词包括"受精失败"",早期胚胎停产"",遗传"",表观遗传"",全外体序列"和相关术语.
- 包括人类研究和相关的动物模型数据.
主要成果:
- 审查了233篇文章,详细介绍了FF和EEA中的遗传突变和机制.
- 确定的关键因素包括环动物精子症,卵细胞激活失败,母体效应基因突变,胚胎基因组激活异常,染色体异常和表观遗传失调.
- 总结了针对特定基因缺陷的治疗进展.
结论:
- 这些发现有助于开发用于使用遗传标记的不孕症诊断的分子查工具.
- 为临床实践提供指导,建议基于已识别的基因突变进行ICSI或人工卵细胞激活等干预.
- 未来的生育治疗可能涉及基因疗法,以改善或恢复生殖功能.
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