Reports of Biochemistry and Molecular Biology

en Gene Polymorphism, Microdeletion, and Gene Expression of PRM1, PRM2, AZFc in Infertile Males زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <div style="text-align: justify;">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). Conclusions: 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.  </div> AZFc, Gene expression, Male infertility, Polymorphism, PRM1, PRM2. 173 184 http://rbmb.net/browse.php?a_code=A-10-1212-3&slc_lang=en&sid=1 Nashwa Jabbar Kadhum 100319475328460017881 100319475328460017881 No Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran. Narges Dastmalchi 100319475328460017882 100319475328460017882 No Department of Biology, University College of Nabi Akram, Tabriz Iran. Parisa Banamolaei 100319475328460017883 100319475328460017883 No Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran. Reza Safaralizadeh Safaralizadeh@tabrizu.ac.ir 100319475328460017884 100319475328460017884 Yes Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.