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首页> 外文期刊>AIMS Genetics >De novo cytogenetic alterations in spermatozoa of subfertile males might be due to genome instability associated with idiopathic male infertility: Experimental evidences and Review of the literature Running title: Sperm cytogenetic alterations and mal
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De novo cytogenetic alterations in spermatozoa of subfertile males might be due to genome instability associated with idiopathic male infertility: Experimental evidences and Review of the literature Running title: Sperm cytogenetic alterations and mal

机译：从不育男性精子的新生细胞遗传学改变可能是由于与特发性男性不育症相关的基因组不稳定性：实验证据和文献综述

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Male infertility is caused by many factors including genetics. Although part of genetic damages are inherited and could be traced in blood leukocytes, but those de novo alterations induced in spermatogenesis are not part of diagnostic work up. De novo alterations might be the cause of many idiopathic conditions of male infertility. The aim of this study was to evaluate DNA damage, sex chromosomal aneuploidy and DAZ microdeletion in sperms of subfertile males in comparison with normal healthy individuals. Whole blood and semen samples were obtained from 75 subfertile and 45 normal men. Semen samples from karyotypically normal subfertile and normal individuals were used for DNA fragmentation, sex chromosome aneuploidy and DAZ microdeletion analysis. Sperm DNA damage was assessed by alkaline comet assay, chromosome aneuploidy and DAZ microdeletion was assessed using a combined primed in situ labeling and fluorescent in situ hybridization (PRINS-FISH) method. A significantly high percentage of DNA fragmentation was observed in subfertile patients compared to control. Similar observation was observed for sex chromosome aneuploidy and DAZ microdeletion ( p < 0.01). A relatively small interindividual difference was seen in all three assays performed. However DAZ microdeletion was observed as mosaic form in Y bearing sperms. Results indicate that subfertile males experience higher genome instability in spermatogenesis expressed as DNA damage and consequently sperm chromosomal aneuploidy or microdeletions. Occurrence of de novo genetic alterations caused by environmental chemico-physical genotoxic agents during spermatogenesis might be one of the causes of idiopathic male infertility.
机译：男性不育是由许多因素引起的，包括遗传学。尽管遗传损伤的一部分是遗传性的，并且可以在血液白细胞中找到，但是在精子发生中引起的从头改变并不属于诊断工作的一部分。从头改变可能是男性不育的许多特发性状况的原因。这项研究的目的是评估与正常健康个体相比，亚生育力男性精子中的DNA损伤，性染色体非整倍性和DAZ微缺失。从75名不育和45名正常男性中获得全血和精液样本。来自核型正常亚生育和正常个体的精液样本用于DNA片段化，性染色体非整倍性和DAZ微缺失分析。精子DNA损伤通过碱彗星试验评估，染色体非整倍性和DAZ微缺失通过引物原位标记和荧光原位杂交（PRINS-FISH）方法进行评估。与对照组相比，在亚健康的患者中观察到了很高比例的DNA断裂。性染色体非整倍性和DAZ微缺失也观察到类似的观察结果（p <0.01）。在进行的所有三种测定中观察到相对较小的个体差异。然而，在携带Y的精子中观察到DAZ微缺失为镶嵌形式。结果表明，不育男性表现出更高的基因组不稳定性，表现为DNA损伤，进而表现为精子染色体非整倍性或微缺失。在生精过程中由环境化学物理遗传毒性剂引起的从头遗传改变的发生可能是特发性男性不育的原因之一。

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