DMRT1、RBMY和AZFb基因多态性及其表达在无精子症易感性中的作用

Q3 Biochemistry, Genetics and Molecular Biology
Azeez Saleh, Narges Dastmalchi, Parisa Banamolaei, R. Safaralizadeh
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引用次数: 0

摘要

男性不育可因精子发生缺陷而发生。男性不育最常见的原因是无精子症和少精子症,这有几个潜在的因素,其中一个是遗传的。本研究旨在探讨伊朗男性无精子症与DMRT1和RBMY1A1基因多态性和AZFb区域微缺失的关系。此外,通过逆转录聚合酶链反应(RT-PCR)评估这些基因的表达。本病例对照研究共纳入了100名无精子症、少精子症或严重少精子症的伊朗男性和100名可生育的对照组。采用teat - arms PCR对200名受试者进行DMRT1 rs755383和RBMY1A1 rs1481942953多态性基因分型。用多重PCR方法研究了Y染色体AZFb区域的两个序列标记位点(STS)标记的存在。RT-PCR检测无精子症患者睾丸组织中表达情况。DMRT1基因rs755383与无精子症风险增加相关,p值为0.038。而RBMY1A1 (rs1481942953)基因多态性在基因型分布上无显著差异。4例患者出现Y染色体微缺失,AZFb区sY127和sY134标记缺失。不育雄性的cDNA分析显示DMRT1和PRY (AZFb区域的主要基因之一)表达水平较低,p值<0.0001。相比之下,RBMY1A1表达水平在患者和对照组之间无差异,p值为0.112。采用受试者工作特征(ROC)曲线分析,检测具有生物标志物潜力的基因。DMRT1和PRY的auc分别为83%和77%,在无精子症检测中具有诊断标记潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
DMRT1, RBMY, and AZFb genes polymorphism and expression role in azoospermia susceptibility
Male infertility can occur due to spermatogenesis defects. The most common causes of male infertility are azoospermia and oligospermia, which have several underlying factors, one of which is genetic. This study aimed to investigate the association of azoospermia with the DMRT1 and RBMY1A1 genes polymorphisms and AZFb region microdeletions in Iranian men. Moreover, these genes expression were evaluated by reverse transcriptase-polymerase chain reaction (RT-PCR). A total of 100 Iranian men with azoospermia, oligozoospermia, or severe oligozoospermia and 100 fertile controls were included in this case-control study. A total of 200 subjects were genotyped for DMRT1 rs755383 and RBMY1A1 rs1481942953 polymorphisms using Tetra-ARMS PCR. The presence of two sequence-tagged sites (STS) markers from the Y chromosome AZFb region was also investigated by multiplex PCR. RT-PCR was used to analyze the expression in the testis tissue of azoospermia patients. With a P-value of 0.038, rs755383 in the DMRT1 gene was associated with an increased risk of azoospermia. However, no significant difference was found in genotype distribution in the RBMY1A1 (rs1481942953) gene polymorphism. Four patients showed Y chromosome microdeletions with sY127 and sY134 markers in the AZFb region. Infertile males' cDNA analysis revealed low expression levels for DMRT1 and PRY (one of the main genes in the AZFb region) with a p-value<0.0001. In contrast, RBMY1A1 expression level did not differ between patients and control groups with a p-value of 0.112. A receiver operating characteristic (ROC) curve analysis was carried out to detect genes with biomarker potential. With AUCs of 83% and 77%, DMRT1 and PRY had diagnostic marker potential in azoospermia detection.
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来源期刊
Journal of Advanced Biotechnology and Experimental Therapeutics
Journal of Advanced Biotechnology and Experimental Therapeutics Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
1.90
自引率
0.00%
发文量
41
审稿时长
8 weeks
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