Analysis of CDK2 mutations in Chinese men with non-obstructive azoospermia who underwent testis biopsy

Abstract To examine whether mutations of the CDK2 gene exist in Chinese men with non-obstructive azoospermia (NOA) with different histopathology, we recruited 175 Chinese men with idiopathic NOA who underwent testis biopsy, including hypospermatogenesis, germ cell maturation arrest and Sertoli cell only syndrome. Genomic DNA was extracted from peripheral blood samples. Subsequently, the seven exons of the CDK2 gene were amplified using polymerase chain reaction with specific primers, respectively. The polymerase chain reaction products were sequenced on an automated sequencer. We identified four known single nucleotide polymorphisms: c.324G>A in exon 1; c.363T>C in exon 2; c.*570G>A; and c.*1160G>C in the 3′ UTR of the CDK2 gene. Comparison of the genotype and allele frequencies showed no significant differences between NOA cases and controls for the four single nucleotide polymorphisms. Furthermore, no significant differences were found between each pathological group and control group, respectively. The results indicate that mutations in the coding sequence of the CDK2 gene may not be responsible for idiopathic NOA in Chinese men. Future studies in large cohorts of different ethnic populations are warranted to establish whether associations exist between the CDK2 gene and NOA.