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荧光原位杂交(FISH)技术评估精子染色体异常及其对生殖潜能的影响。

Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential.

机构信息

Department of Molecular Medicine and Development, University of Siena, 53100, Siena, Italy.

出版信息

J Assist Reprod Genet. 2024 Oct;41(10):2787-2793. doi: 10.1007/s10815-024-03224-4. Epub 2024 Aug 20.

Abstract

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.

摘要

目的

染色体异常在男性不育中起着重要作用,这在人类生育能力方面已成为一个重大问题。本研究旨在根据精液参数评估人类精子的非整倍体和二倍体发生率。

方法

我们按照第 6 版世界卫生组织标准对 50 名男性进行了精液分析;样本分为正常精子(n=23)和精液参数改变的样本(n=27)。为了评估精子的染色体数目改变,我们使用了荧光原位杂交(FISH)。

结果

在精液参数改变的样本中观察到非整倍体和二倍体明显增加。此外,对该组进行分层分析,我们观察到与正常精子相比,少精子症、弱精子症-畸形精子症(AT)和少弱畸形精子症(OAT)样本的非整倍体和总异常明显增加。

结论

我们的结果表明,精液参数改变与染色体数目异常之间存在相关性,证实精子 FISH 分析可以作为评估不育男性生殖潜力的附加临床工具。此外,我们的结果表明,使用 FISH 检测染色体非整倍体时,更新正常范围的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0f1/11534918/bca0617c52ec/10815_2024_3224_Fig1_HTML.jpg

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