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人类生殖医学中的无细胞 DNA 发现:为 ART 中的生物标志物和基因检测提供新工具。

Cell-free DNA discoveries in human reproductive medicine: providing a new tool for biomarker and genetic assays in ART.

机构信息

Department of Anatomy, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran.

出版信息

J Assist Reprod Genet. 2021 Feb;38(2):277-288. doi: 10.1007/s10815-020-02038-4. Epub 2021 Jan 9.

Abstract

Cell-free DNAs (cfDNAs) are fragmented forms of DNA that are released into extracellular environments. Analyzing them, regarding either concentration or genetic/epigenetic status can provide helpful information about disorders, response to treatments, estimation of success rates, etc. Moreover, since they are presented in body fluids, evaluation of the aforementioned items would be achieved by less/non-invasive methods. In human reproduction field, it is required to have biomarkers for prediction of assisted reproduction techniques (ART) outcome, as well as some non-invasive procedures for genetic/epigenetic assessments. cfDNA is an appropriate candidate for providing the both approaches in ART. Recently, scientists attempted to investigate its application in distinct fields of reproductive medicine that resulted in discovering its applicability for biomarker and genetic/epigenetic analyses. However, due to some limitations, it has not reached to clinical administration yet. In this article, we have reviewed the current reported data with respect to advantages and limitations of cfDNA utilization in three fields of ART, reproduction of male and female, as well as in vitro developed embryos.

摘要

无细胞游离 DNA(cfDNA)是一种 DNA 的片段形式,它会被释放到细胞外环境中。分析 cfDNA 的浓度或遗传/表观遗传状态可以提供关于疾病、治疗反应、成功率估计等方面的有用信息。此外,由于它们存在于体液中,因此可以通过微创或非侵入性方法来评估上述项目。在人类生殖领域,需要有预测辅助生殖技术(ART)结果的生物标志物,以及一些用于遗传/表观遗传评估的非侵入性程序。cfDNA 是提供这两种方法的合适候选物。最近,科学家们试图研究其在生殖医学不同领域的应用,结果发现其适用于生物标志物和遗传/表观遗传分析。然而,由于存在一些局限性,它尚未在临床管理中得到应用。在本文中,我们回顾了目前报道的数据,讨论了 cfDNA 在三个领域中的应用,包括男性和女性的生殖、体外培养胚胎,以及其在辅助生殖技术中的优势和局限性。

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