Comprehensive analysis of genes related to human azoospermia

我们通过对日本无精子症患者的减数分裂停滞分析，研究了人类PRDM9、CDK2、PMC3IP、LMTK2和PARP-2缺陷是否与无精子症有关。我们在PRDM9中发现了3个新的SNPs，并且在PRDM9的SNP2和SNP3中杂合子的基因型和等位基因频率在患者组中显著高于对照组。我们还检测了PARP2中的5个SNPs，发现患者组PARP2中SNP1杂合子的基因型频率较高。此外，还对Spata 17基因进行了突变分析，该基因是通过对人类睾丸组织进行微阵列分析确定的导致男性不育的10个新基因之一。在减数分裂停滞患者中发现了3个SNPs。在减数分裂停滞组，SPATA17的SNP3等位基因频率显著升高。这些结果表明，PRDM9、PARP2和SPATA17可能在人类精子发生中起关键作用。

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.