Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.

IF 3.6 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Journal, genetic engineering & biotechnology Pub Date : 2023-11-10 DOI:10.1186/s43141-023-00584-9
Maha M Eid, Ola M Eid, Amany H Abdelrahman, Islam F S Abdelrahman, Elshaimaa A F Aboelkomsan, Rania M A AbdelKader, Mirhane Hassan, Marwa Farid, Alshaymaa A Ibrahim, Safa N Abd El-Fattah, Rana Mahrous
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Abstract

Background: The deletions of azoospermic factor regions (AZF) are considered risk factor of spermatogenic failure. AZF duplications or complex copy number variants (CNVs) were rarely studied because STS-PCR could not always detect these changes. The application of multiplex ligation-dependent probe amplification (MLPA) as a valuable test for detection of the deletion and or duplication was introduced to investigate the AZF sub-region CNVs. The MLPA technique is still not applied on a large scale, and the publications in this area of research are limited. The aim of this work was to evaluate the efficacy of MLPA assay to detect AZF-linked CNVs in idiopathic spermatogenic failure patients and to evaluate its importance as a prognostic marker in the reproduction outcome.

Results: Forty infertile men (37 with azoospermia and 3 with severe oligozoospermia) and 20 normal fertile men were subjected to thorough clinical, pathological, and laboratory assessment, chromosomal study, MLPA, STS-PCR assays, histopathology study, and testicular sperm retrieval (TESE). Out of the 40 patients, 7 patients have shown CNV in the AZFc region, 6 patients have partial deletion, and one patient has partial duplication. Only one of the normal control has AZFc duplication. STS-PCR was able to detect the deletion in only 4 out of the 7 positive patients and none of the control.

Conclusion: We concluded that MLPA should be applied on a larger scale for the detection of Y chromosome microdeletion as a rapid, efficient, and cheap test.

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埃及特发性男性不育患者队列中AZFc基因缺失的检测。
背景:无精子症因子区缺失被认为是精子发生失败的危险因素。AZF重复或复杂拷贝数变异(CNVs)很少被研究,因为STS-PCR不能总是检测到这些变化。介绍了多重连接依赖性探针扩增(MLPA)作为检测缺失和/或重复的有价值的测试方法的应用,以研究AZF亚区CNVs。MLPA技术尚未大规模应用,该研究领域的出版物也有限。本工作的目的是评估MLPA检测特发性生精功能衰竭患者中AZF相关CNVs的疗效,并评估其作为生殖结果预后标志物的重要性。结果:40名不育男性(37名无精子症,3名严重少精症)和20名正常生育男性接受了全面的临床、病理和实验室评估、染色体研究、MLPA、STS-PCR测定、组织病理学研究和睾丸精子回收(TESE)。在40名患者中,7名患者在AZFc区域显示CNV,6名患者部分缺失,1名患者部分重复。只有一个正常对照具有AZFc重复。STS-PCR仅能在7例阳性患者中的4例中检测到缺失,而在对照组中没有检测到缺失。结论:MLPA作为一种快速、高效、廉价的检测方法,应在更大范围内应用于Y染色体微缺失的检测。
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