Comprehensive analysis of genes related to human azoospermia

人类无精症相关基因综合分析

• 批准号: 20591902
• 负责人: SENGOKU Kazuo
• 金额: $ 3万
• 依托单位: Asahikawa Medical College
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20591902/
• 关键词: 無精子症; 遺伝子; 精子形成; 減数分裂異常; 減数分裂; 男性不妊

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.

我们调查了人类PRDM9，CDK2，PMC3IP，LMTK2和PARP-2缺陷是否通过减数分裂抑制与Azoospermia相关，该突变分析在日本的Azoospermia患者中。我们在PRDM9中发现了三个新的SNP，并且患者组的杂合子和PRDM9的SNP3中的杂合子的基因型和等位基因频率明显更高。我们还检测到PARP2中的五个SNP，并表明患者组的PARP2 SNP1中杂合子的基因型频率较高。此外，SPATA 17的突变分析是通过人类睾丸组织的微阵列分析确定的10个新型基因之一。在减数分裂停滞的患者中发现了三个SNP。减数分裂逮捕组的SPATA17的SNP3等位基因的频率显着升高。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。

项目成果

新たなヒト無精子症原因候補遺伝子であるSPATA17遺伝子の解析

导致人类无精症的新候选基因 SPATA17 基因分析

• 发表时间: 2009
• 作者: 宮本敏伸、佐久川直子;ら
• 通讯作者: ら

ヒト無精子症におけるヒトLMTK2遺伝子及びPARP-2遺伝子の解析

人类无精子症中人类LMTK2基因和PARP-2基因的分析

• 发表时间: 2008
• 作者: 宮本敏伸;佐久川直子,千石一雄
• 通讯作者: 佐久川直子,千石一雄

Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

• DOI: 10.1007/s10815-008-9270-x
• 发表时间: 2008-11-01
• 期刊: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
• 影响因子: 3.1
• 作者: Miyamoto, Toshinobu;Koh, Eitetsu;Sengoku, Kazuo
• 通讯作者: Sengoku, Kazuo

Two single nucleotide polymorphism in PRDM9 (MEISETZ) gene maybe a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

PRDM9（MEISETZ）基因的两个单核苷酸多态性可能是日本减数分裂停滞无精症患者的遗传危险因素

• 发表时间: 2008
• 期刊: J Assist Reprod Genet 25
• 作者: Miyamoto T;Koh E;Sakugawa N;Sato H;Hayashi H;Namiki M;Sengoku K
• 通讯作者: Sengoku K

LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest

• DOI: 10.1007/s10815-009-9347-1
• 发表时间: 2009-10-01
• 期刊: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
• 影响因子: 3.1
• 作者: Sakugawa, Naoko;Miyamoto, Toshinobu;Sengoku, Kazuo
• 通讯作者: Sengoku, Kazuo