AZFb Gene Polymorphism and Gene Expression with Azoospermia in Iranian Men

Azoospermia, characterized by the absence of sperm in the ejaculate, is a significant cause of maleinfertility. Genetic factors, including polymorphisms within the AZFb gene, have been implicatedin its development. This case-control study aimed to investigate the association between AZFbgene polymorphisms, gene expression, and azoospermia susceptibility. A total of ۲۰۰ maleparticipants (۱۰۰ azoospermic patients and ۱۰۰ fertile controls) were included in the study.Genomic DNA was extracted, and the AZFb gene was sequenced to identify polymorphic variants.qRT-PCR was used to measure AZFb mRNA levels in testicular tissue samples. Microdeletionanalysis revealed that ۴% of the patients had deletions in the AZFb region. The study found apotential association between AZFb gene polymorphisms, gene expression, and susceptibility toazoospermia. The identified polymorphisms and downregulation of gene expression inazoospermic patients highlight the involvement of the AZFb gene in spermatogenesis. Furtherresearch is needed to explore the underlying mechanisms and clinical implications of thesefindings for the diagnosis and treatment of azoospermia.

Keywords:

Gene polymorphism , Gene expression , AZFb , Infertility , Azoospermia