An investigation on genetic mutations affecting embryo, oocyte, and sperm quality: An IVF failure perspective

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene Pub Date : 2025-02-01 DOI:10.1016/j.humgen.2025.201384

Tahereh Barati , Zohreh Mirzaei , Amir Ebrahimi , Davood Ghavi , Mahmoud Shekari Khaniani , Sima Mansoori Derakhshan

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Abstract

Successful reproduction in humans requires high-quality gametes and successful fertilization. Disruptions in oocyte and sperm maturation can cause infertility and IVF/ICSI procedure failure. Identifying valuable molecular markers is critical for understanding the genetic basis of these failures and assessing gamete quality. In this review, we have described the mutations that affect oocyte, embryo, and sperm quality at each stage of maturation. Genes such as TUBB8, BTG4, PADI6, MEI1, REC114, TLE6, KHDC3L, WEE2, PATL2, NLRP5, CHK1, ZP1, ZP2, and ZP3 are discussed for their roles in oocyte maturation, fertilization, zygote cleavage, and early embryonic development. As well as genes like KCNU1, DNAH6, HAUS7, PLCζ, ZDHHC19, CFTR, DAZ, CATSPER2, 3, and DNAH2 are explored for their influence on sperm morphology, motility, and count. These genetic markers and variants will serve as the basis for personalized genetic counseling and possible patient therapies.

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影响胚胎、卵母细胞和精子质量的基因突变的研究：IVF失败的视角

人类的成功繁殖需要高质量的配子和成功的受精。卵母细胞和精子成熟的中断可导致不孕症和IVF/ICSI手术失败。鉴定有价值的分子标记对于理解这些失败的遗传基础和评估配子质量至关重要。在这篇综述中，我们描述了在成熟的每个阶段影响卵母细胞、胚胎和精子质量的突变。讨论了TUBB8、BTG4、PADI6、MEI1、REC114、TLE6、KHDC3L、WEE2、PATL2、NLRP5、CHK1、ZP1、ZP2和ZP3等基因在卵母细胞成熟、受精、受精卵分裂和早期胚胎发育中的作用。此外，KCNU1、DNAH6、HAUS7、PLCζ、ZDHHC19、CFTR、DAZ、CATSPER2、3和DNAH2等基因对精子形态、活力和数量的影响也被探讨。这些遗传标记和变异将作为个性化遗传咨询和可能的患者治疗的基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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