| Abstract:
Background: SEPTINS belong to a family of polymerizing GTP-binding proteins that are required for many cellular functions, such as vesicular trafficking, mitosis, membrane compartmentalization and cytoskeletal remodeling. Among all SEPTIN genes, SEPT12 is dominantly expressed in testis tissue of adults, known as an essential annulus component of mature sperm.
Therefore, it is hypothesized that genetic alterations of SEPT12 may be associated with male infertility. In the current work we tried to find gene polymorphisms of SEPT12 in infertile men with azoospermia.
Materials and Methods: Genomic DNA was extracted from periphery blood samples of 30 infertile men and 30 normal controls referred to the Royan Institute, and DNA fragments were amplified by PCR and analyzed by sequencing.
Results: Genotype analyses indicated that G800A polymorphic SEPT12 alleles were distributed in three peaks of frequency in both control and disease groups. Categorization of the alleles into (GG), (GA), (AA) types revealed a significant difference between azoospermia and control samples (p less than 0.05 by chi-squre test).
Conclusion: These results suggest that G800A polymorphism in SEPT12 gene may have a determinative role in the pathogenesis of male infertility.
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