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Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome
https://asahikawa-med.repo.nii.ac.jp/records/5883
https://asahikawa-med.repo.nii.ac.jp/records/5883f55f6f66-c179-4a5c-a88a-08eb337cafb7
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
6980.pdf (423.8 kB)
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| Item type | 学位論文 / Thesis or Dissertation_02(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-03-29 | |||||
| タイトル | ||||||
| タイトル | Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Azoospermia | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | RAD21L | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | SCOS | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | meiotic arrest | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | single-nucleotide polymorphism | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| その他（別言語等）のタイトル | ||||||
| その他のタイトル | 減数分裂停止及びSertoli cell-only syndromeに起因する日本人無精子症患者におけるヒトRAD21L遺伝子の解析に関する研究 | |||||
| 著者 |
水無瀬, 学
× 水無瀬, 学 |
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| 著者 ローマ字 | ||||||
| 値 | Minase, Gaku | |||||
| 書誌情報 |
Human fertility : journal of the British Fertility Society 巻 20, 号 3, p. 217-220, 発行日 2017-09-01 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1464-7273 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1080/14647273.2017.1292004. | |||||
| 識別番号 その他 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | PMID：28635411 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲523 | |||||
| 学位名 | ||||||
| 学位名 | 博士（医学） | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 10107 | |||||
| 学位授与機関名 | 旭川医科大学 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls. Three coding single-nucleotide polymorphisms (SNP1-SNP3) were detected in the meiotic arrest patient group. Sertoli cell-only syndrome is considered a common cause of non-obstructive azoospermia. For comparison, the RAD21L coding regions in which SNP1-SNP3 were detected were sequenced in 140 patients with Sertoli cell-only syndrome. Statistical analyses were used to compare the two groups of patients with the control group. Genotype and allele frequencies of SNP2 and SNP3 were notably higher in the two patient groups compared with the control group (Bonferroni adjusted p value <0.016). These results suggest a critical role for RAD21L in human spermatogenesis. | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 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 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
