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A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest
https://doi.org/10.24517/00053642
https://doi.org/10.24517/00053642f2ad956d-a472-4bbe-9c82-debe38982278
| 名前 / ファイル | ライセンス | アクション |
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ME-PR-NAMIKI-M-623.pdf (471.8 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||
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| 公開日 | 2019-03-08 | |||||||||
| タイトル | ||||||||||
| タイトル | A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||
| 資源タイプ | journal article | |||||||||
| ID登録 | ||||||||||
| ID登録 | 10.24517/00053642 | |||||||||
| ID登録タイプ | JaLC | |||||||||
| 著者 |
Miyamoto, Toshinobu
× Miyamoto, Toshinobu× Tsujimura, Akira× Miyagawa, Yasushi× Koh, Eitetsu× Sakugawa, Naoko× Miyakawa, Hiroe× Sato, Hisashi× Namiki, Mikio× Okuyama, Akihiko× Sengoku, Kazuo |
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| 著者別表示 |
高, 栄哲
× 高, 栄哲
× 並木, 幹夫
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| 提供者所属 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | 金沢大学医薬保健研究域医学系 | |||||||||
| 書誌情報 |
Asian Journal of Andrology 巻 11, 号 5, p. 623-628, 発行日 2009 |
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| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 1008-682X | |||||||||
| NCID | ||||||||||
| 収録物識別子タイプ | NCID | |||||||||
| 収録物識別子 | AA11693946 | |||||||||
| DOI | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | 10.1038/aja.2009.30 | |||||||||
| 出版者 | ||||||||||
| 出版者 | Asian Society of Andrology / Medknow Publications | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs: SNP1-SNP3) were detected in the patients with meiotic arrest. No significant differences in the genotype or allele frequencies of SNP1 and SNP2 were found between patients with meiotic arrest and the others. However, the frequency of the SNP3 allele was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 may play a critical role in human spermatogenesis, especially in meiosis. | |||||||||
| 権利 | ||||||||||
| 権利情報 | Copyright © AJA, SIMM & SJTU | |||||||||
| 著者版フラグ | ||||||||||
| 出版タイプ | VoR | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
