Francesca Paola Luongo, Eugenia Annunzi, Francesca Girolamo, Giuseppe Belmonte, Rosetta Ponchia, Paola Piomboni, Alice Luddi
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引用次数: 0
摘要
目的：染色体异常在男性不育中起着重要作用，已成为人类生育的一个重要问题。本研究旨在根据精液参数评估人类精子中精子非整倍体和二倍体的发生率：我们根据世界卫生组织第六版标准对 50 名男性受试者的精液进行了分析；样本被分为正常无精症患者（23 人）和精液参数改变者（27 人）。为了评估精子染色体数量的变化，采用了荧光原位杂交（FISH）技术：结果：在精液参数改变的样本中，非整倍体和二倍体明显增加。此外，与正常无精子症患者相比，我们观察到少精子症、无精子症（AT）和少精子无精子症（OAT）样本中的非整倍体和总异常率显著增加：我们的研究结果表明，精液参数改变与染色体数目异常之间存在相关性，这证实精子 FISH 分析可作为评估不育男性生殖潜能的另一种临床工具。此外，我们的研究结果还表明，在使用 FISH 检测染色体非整倍体时，更新正常值范围非常重要。
Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential.
Purpose: Chromosomal abnormalities play an important role in male infertility, which is becoming a significant issue in human fertility. Aim of this study was to evaluate the incidence of spermatic aneuploidies and diploidies in human sperm, according to semen parameters.
Methods: We performed semen analysis according to the 6th edition of WHO criteria in 50 male subjects; samples were divided into normozoospermic (n = 23) or those with altered seminal parameters (n = 27). To assess chromosomal numerical alterations of sperm, fluorescence in situ hybridization (FISH) was used.
Result: A significant increase in aneuploidies and diploidies was observed in samples with altered seminal parameters. Furthermore, stratifying this group, we observed a significant increase in aneuploidies and total abnormalities in oligozoospermic, asthenoteratozoospermic (AT), and oligoteratoasthenozoospermic (OAT) samples compared to normozoospermic.
Conclusion: Our results showed the correlation between altered seminal parameters and numerical chromosomal abnormalities, confirming that sperm FISH analysis could be an additional clinical tool to assess reproductive potential in infertile males. Moreover, our results point to the importance of updating the normality ranges for detecting chromosomal aneuploidies using FISH.
期刊介绍：
The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species.
The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.
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