Gene Polymorphism, Microdeletion, and Gene Expression of PRM۱, PRM۲, AZFc in Infertile Males

Background: Background: Male infertility contributes to roughly ۱۵% 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, ۱۰۰ infertile males (۳۳ with azoospermia, ۴۸ with oligozoospermia, and ۱۹ with severe oligozoospermia) were chosen as the study subjects, and ۱۰۰ 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 PRM۱ and PRM۲ were determined through PCR-RFLP. Furthermore, quantitative real-time PCR was conducted to evaluate PRM۱, PRM۲, and DAZ۱ (found in the AZFc region) expression levels in testis tissue. Results: The frequency of the rs۷۷۹۳۳۷۷۷۴ SNP in the PRM۲ gene in the study population had no significant differences. However, a significant association was observed between the rs۷۳۷۰۰۸CA genotype (P= ۰.۰۱۳) and the C allele (P= ۰.۰۲۵) as a risk factor for male infant mortality. The deletion of sY۲۵۴ and sY۲۵۵ was discovered in azoospermia and severe oligozoospermia patients. Furthermore, all of these genes showed considerably low expression levels. However, only DAZ۱ was identified with diagnostic biomarker potential (AUC=۰.۷۴۲). 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 PRM۲ polymorphism and azoospermia; however, the CA genotype of PRM۱ polymorphism is significantly associated with azoospermia incidence.

Keywords:

AZFc , Gene expression , Male infertility , Polymorphism , PRM۱ , PRM۲.