Comprehensive analysis of genes related to human azoospermia

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We investigated whether the human PRDM9, CDK2, PMC3IP, LMTK2 and PARP-2 defects are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found three novel SNPs in the PRDM9, and that the genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient groups. We also detected five SNPs in PARP2, and showed that the genotype frequency of heterozygote in SNP1 of PARP2 was higher in the patients group. In addition, mutational analysis of SPATA 17 which was one of 10 novel genes implicated as a cause of male infertility identified by microarray analysis of human testicular tissue was conducted. Three SNPs were identified in the patients with meiotic arrest. The frequency of the SNP3 allele of SPATA17 was significantly elevated in the meiotic arrest group. These results suggest that PRDM9, PARP2 and SPATA17 might play critical roles in human spermatogenesis.