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 20 3

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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 3

Persistent ID (NDL): info:ndljp/pid/11092133

Material type: 博士論文

Author: 水無瀬, 学

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Publication date: 2017-09

Material Format: Digital

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Name of awarding university/degree: 旭川医科大学,博士（医学）

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Note (General)：: Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibite...

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Material Type: 博士論文
ISSN: 1464-7273
Title: 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
Volume: 20 3
Author/Editor: 水無瀬, 学
Publication Date: 2017-09
Publication Date (W3CDTF): 2017-09
Alternative Title: 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
Periodical title: Human fertility : journal of the British Fertility Society
Degree grantor/type: 旭川医科大学
Date Granted: 2018-03-23
Date Granted (W3CDTF): 2018-03-23
Dissertation Number: 甲第523号
Degree Type: 博士（医学）
Conferring No. (Dissertation): 甲第523号
Text Language Code: eng
Subject Heading: Azoospermia
RAD21L
SCOS
meiotic arrest
single-nucleotide polymorphism
Note (General): 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.
Persistent ID (NDL): info:ndljp/pid/11092133
https://dl.ndl.go.jp/pid/11092133
Collection: 障害者向け資料
Collection (Materials For Handicapped People:1): テキストデータ
Collection (particular): 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
Acquisition Basis: 博士論文（自動収集）
Date Accepted (W3CDTF): 2018-05-04T12:13:37+09:00
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Periodical Title (URI): http://amcor.asahikawa-med.ac.jp/modules/xoonips/detail.php?id=20180323_K523
Data Provider (Database): 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