Gene Polymorphism, Microdeletion, and Gene Expression of PRM1, PRM2, AZFc in Infertile Males.

IF 1.6 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Nashwah Jabbar Kadhim, Narges Dastmalchi, Parisa Banamolaei, Reza Safaralizadeh
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引用次数: 0

Abstract

Background: Background: Male infertility contributes to roughly 15% of all infertility cases in couples. The most common cause of male infertility is azoospermia, which is caused by genetic mutations. The connection between various single nucleotide polymorphisms in the PRM genes and AZF region microdeletions with male infertility has not been reported.

Methods: In this case-control study, 100 infertile males (33 with azoospermia, 48 with oligozoospermia, and 19 with severe oligozoospermia) were chosen as the study subjects, and 100 fertile males were selected. Total DNA from peripheral blood was used to amplify two sequence-tagged site markers through multiplex PCR to detect AZFc partial deletions, and SNPs in PRM1 and PRM2 were determined through PCR-RFLP. Furthermore, quantitative real-time PCR was conducted to evaluate PRM1, PRM2, and DAZ1 (found in the AZFc region) expression levels in testis tissue.

Results: The frequency of the rs779337774 SNP in the PRM2 gene in the study population had no significant differences. However, a significant association was observed between the rs737008CA genotype (P= 0.013) and the C allele (P= 0.025) as a risk factor for male infant mortality. The deletion of sY254 and sY255 was discovered in azoospermia and severe oligozoospermia patients. Furthermore, all of these genes showed considerably low expression levels. However, only DAZ1 was identified with diagnostic biomarker potential (AUC=0.742).

Conclusion: When these genes expression levels are reduced, the likelihood of spermatozoa retrieval in azoospermic individuals is elevated. Furthermore, no significant association was observed between PRM2 polymorphism and azoospermia; however, the CA genotype of PRM1 polymorphism is significantly associated with azoospermia incidence.

不育男性PRM1、PRM2、AZFc的基因多态性、微缺失和基因表达。
背景:背景:男性不育约占夫妇不育病例的15%。男性不育最常见的原因是无精子症,这是由基因突变引起的。PRM基因的各种单核苷酸多态性和AZF区微缺失与男性不育之间的联系尚未报道。方法:在本病例对照研究中,选择100名不育男性(33名无精子症,48名少精症,19名严重少精症)作为研究对象,并选择100名可生育男性。利用外周血总DNA通过多重PCR扩增两个序列标记位点标记物,检测AZFc部分缺失,并通过PCR-RFLP测定PRM1和PRM2中的SNPs。此外,进行定量实时PCR以评估睾丸组织中PRM1、PRM2和DAZ1(在AZFc区域中发现)的表达水平。结果:研究人群中PRM2基因rs77933774 SNP的频率没有显著差异。然而,在rs737008CA基因型(P=0.013)和C等位基因(P=0.025)之间观察到显著的相关性,这是男性婴儿死亡率的风险因素。在无精子症和严重少精症患者中发现sY254和sY255缺失。此外,所有这些基因都显示出相当低的表达水平。然而,只有DAZ1具有诊断生物标志物潜力(AUC=0.742)。结论:当这些基因表达水平降低时,无精子症患者精子回收的可能性增加。此外,PRM2多态性与无精子症之间没有明显的相关性;然而,PRM1多态性的CA基因型与无精子症的发生率显著相关。
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来源期刊
Reports of Biochemistry and Molecular Biology
Reports of Biochemistry and Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
2.80
自引率
23.50%
发文量
60
审稿时长
10 weeks
期刊介绍: The Reports of Biochemistry & Molecular Biology (RBMB) is the official journal of the Varastegan Institute for Medical Sciences and is dedicated to furthering international exchange of medical and biomedical science experience and opinion and a platform for worldwide dissemination. The RBMB is a medical journal that gives special emphasis to biochemical research and molecular biology studies. The Journal invites original and review articles, short communications, reports on experiments and clinical cases, and case reports containing new insights into any aspect of biochemistry and molecular biology that are not published or being considered for publication elsewhere. Publications are accepted in the form of reports of original research, brief communications, case reports, structured reviews, editorials, commentaries, views and perspectives, letters to authors, book reviews, resources, news, and event agenda.
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