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 3

• 資料種別: 博士論文
• ISSN: 1464-7273
• 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
• 巻次・部編番号: 20 3
• 著者・編者: 水無瀬, 学
• 出版年月日等: 2017-09
• 出版年（W3CDTF）: 2017-09
• 並列タイトル等: 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
• タイトル（掲載誌）: Human fertility : journal of the British Fertility Society
• 授与機関名: 旭川医科大学
• 授与年月日: 2018-03-23
• 授与年月日（W3CDTF）: 2018-03-23
• 報告番号: 甲第523号
• 学位: 博士（医学）
• 博論授与番号: 甲第523号
• 本文の言語コード: eng
• 件名標目: Azoospermia; RAD21L; SCOS; meiotic arrest; single-nucleotide polymorphism
• 一般注記: 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.; identifier:PMID：28635411; 開始ページ : 217; 終了ページ : 220
• DOI: info:doi/10.1080/14647273.2017.1292004.; https://doi.org/info:doi/10.1080/14647273.2017.1292004.
• 国立国会図書館永続的識別子: info:ndljp/pid/11092133; https://dl.ndl.go.jp/pid/11092133
• コレクション（共通）: 障害者向け資料
• コレクション（障害者向け資料：レベル1）: テキストデータ
• コレクション（個別）: 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• 収集根拠: 博士論文（自動収集）
• 受理日（W3CDTF）: 2018-05-04T12:13:37+09:00
• 記録形式（IMT）: application/pdf
• オンライン閲覧公開範囲: 国立国会図書館内限定公開
• デジタル化資料送信: 図書館・個人送信対象外
• 遠隔複写可否（NDL）: 可
• 掲載誌（URI）: http://amcor.asahikawa-med.ac.jp/modules/xoonips/detail.php?id=20180323_K523
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp