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RNF8基因的上调可以预测无精子症个体中精子的存在。

Upregulation of the RNF8 gene can predict the presence of sperm in azoospermic individuals.

作者信息

Nazari Majid, Babakhanzadeh Emad, Mohsen Aghaei Zarch S, Talebi Mehrdad, Narimani Nima, Dargahi Mandana, Sabbaghian Marjan, Ghasemi Nasrin

机构信息

Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Yazd Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

出版信息

Clin Exp Reprod Med. 2020 Mar;47(1):61-67. doi: 10.5653/cerm.2019.03111. Epub 2020 Mar 1.

DOI:10.5653/cerm.2019.03111
PMID:32146775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7127899/
Abstract

OBJECTIVE

In this study, specimens from testicular biopsies of men with nonobstructive azoospermia (NOA) were used to investigate whether RNF8 gene could serve as a biomarker to predict the presence of sperm in these patients.

METHODS

Testicular biopsy specimens from 47 patients were classified according to the presence of sperm (positive vs. negative groups) and investigated for the expression of RNF8. The level of RNF8 gene expression in the testes was compared between these groups using reverse-transcription polymerase chain reaction.

RESULTS

The expression level of RNF8 was significantly higher in testicular samples from the positive group than in those from the negative group. Moreover, the area under the curve of RNF8 expression for the entire study population was 0.84, showing the discriminatory power of RNF8 expression in differentiating between the positive and negative groups of men with NOA. A receiver operating characteristic curve analysis showed that RNF8 expression had a sensitivity of 81% and a specificity of 84%, with a cutoff level of 1.76.

CONCLUSION

This study points out a significant association between the expression of RNF8 and the presence of sperm in NOA patients, which suggests that quantified RNF8 expression in testicular biopsy samples may be a valuable biomarker for predicting the presence of spermatozoa in biopsy samples.

摘要

目的

在本研究中,使用非梗阻性无精子症(NOA)男性睾丸活检的标本,以研究RNF8基因是否可作为预测这些患者精子存在情况的生物标志物。

方法

根据精子的存在情况(阳性组与阴性组)对47例患者的睾丸活检标本进行分类,并研究RNF8的表达。使用逆转录聚合酶链反应比较这些组之间睾丸中RNF8基因的表达水平。

结果

阳性组睾丸样本中RNF8的表达水平显著高于阴性组。此外,整个研究人群中RNF8表达的曲线下面积为0.84,表明RNF8表达在区分NOA男性的阳性和阴性组方面具有鉴别能力。受试者工作特征曲线分析表明,RNF8表达的敏感性为81%,特异性为84%,截断水平为1.76。

结论

本研究指出RNF8表达与NOA患者精子存在之间存在显著关联,这表明睾丸活检样本中RNF8表达的定量可能是预测活检样本中精子存在的有价值的生物标志物。

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本文引用的文献

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Cell J. 2018 Jan;19(4):660-665. doi: 10.22074/cellj.2018.4409. Epub 2017 Nov 4.
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Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility.男性不育中的精子发生、DNA损伤与DNA修复机制
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Genetic association study of RNF8 and BRDT variants with non-obstructive azoospermia in the Chinese Han population.
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Insights into the Evolution of Spermatogenesis-Related Ubiquitin-Proteasome System Genes in Abdominal Testicular Laurasiatherians.腹孔睾丸劳亚兽类精子发生相关泛素-蛋白酶体系统基因进化的研究进展。
Genes (Basel). 2021 Nov 10;12(11):1780. doi: 10.3390/genes12111780.
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Non-obstructive azoospermia: current and future perspectives.非梗阻性无精子症:现状与未来展望
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中国汉族人群中RNF8和BRDT基因变异与非梗阻性无精子症的遗传关联研究。
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