Background STAG3 is essential for male meiosis and testis of male Stag3-/- mice shows the histopathological type of germ cell maturation arrest (MA). Whether mutations of the STAG3 gene exist in Chinese idiopathic non-obstructive azoospermia (NOA) patients needs to be determined.
Methods We recruited 58 Chinese NOA men with MA who underwent testis biopsy and 192 fertile men as the control group. The 34 exons of the STAG3 gene were amplified using polymerase chain reaction (PCR) and sequenced.
Results We identified eight novel single nucleotide polymorphisms (SNPs), including two missense SNPs (c.433T>C in exon2 and c.553A>G in exon3), three synonymous SNPs (c.539G>A, c.569C>T in exon3, and c.1176C>G in exon8), and three SNPs in introns. The allele and genotype frequencies of the novel and other SNPs have no significant differences between two groups.
Conclusions Our results indicated that mutations in the coding sequence of the STAG3 gene were uncommon in NOA patients with MA in Chinese population. Future studies in large cohorts of different ethnic populations will be needed to determine the association between the STAG3 gene and NOA.