Parisa Banamolaei

University of Tabriz

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Narges Dastmalchi

University College of Nabi Akram

Reza Safaralizadeh

University of Tabriz

Azeez Saleh

Nashwah Jabbar Kadhim

University of Tabriz

Mohammad Ismael Ibrahim Jebur

University of Tabriz

Cooperative Institutions

University of Tabriz

Iran University of Medical Sciences

Tabriz University of Medical Sciences

University College of Nabi Akram

Azarbaijan Shahid Madani University

Ministry of Health

Mashhad University of Medical Sciences

National Institute of Genetic Engineering and Biotechnology

Children's Medical Center

University of Tehran

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Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Daehan saengsik uihak hoeji/Clinical and experimental reproductive medicine (2023)

Mohammad Ismael Ibrahim Jebur Narges Dastmalchi Parisa Banamolaei Reza Safaralizadeh

Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia.

Expression (computer science)

10.5653/cerm.2023.06219

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

PubMed (2023)

Nashwah Jabbar Kadhim Narges Dastmalchi Parisa Banamolaei Reza Safaralizadeh

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.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.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).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.

Azoospermia factor

SNP

10.52547/rbmb.12.1.173

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DMRT1, RBMY, and AZFb genes polymorphism and expression role in azoospermia susceptibility

Journal of Advanced Biotechnology and Experimental Therapeutics (2023)

Azeez Saleh Narges Dastmalchi Parisa Banamolaei Reza Safaralizadeh

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.

Oligospermia

10.5455/jabet.2023.d143

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