Analysis of STAG3 variants in Chinese non-obstructive azoospermia patients with germ cell maturation arrest.

ABSTRACT: STAG3 is essential for male meiosis and testis of male Stag3^-/- mice shows the histopathological type of germ cell maturation arrest (MA). Whether variants of the STAG3 gene exist in Chinese idiopathic non-obstructive azoospermia (NOA) patients needs to be determined. 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. 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 S

SUBMITTER: Liu W 

PROVIDER: S-EPMC8115624 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature