WEKO3
インデックスリンク
アイテム
New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population
http://hdl.handle.net/2297/39692
http://hdl.handle.net/2297/39692725c78db-f64d-4647-a7a9-4783a77d0e59
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-KOH-E-910.pdf (1.1 MB)
|
|
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population | |||||
| 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 | |||||
| 著者 |
Iijima, Masashi
× Iijima, Masashi× Koh, Eitetsu× Izumi, Kouji× Taya, Masaki× Maeda, Yuji× Kyono, Kouichi× Yoshida, Atsumi× Namiki, Mikio |
|||||
| 書誌情報 |
International Journal of Urology 巻 21, 号 9, p. 910-916, 発行日 2014-09-01 |
|||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0919-8172 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA11042471 | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1111/iju.12467 | |||||
| 出版者 | ||||||
| 出版者 | Blackwell Publishing | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Objectives: Deletions in the azoospermia factor regions are the most common known molecular genetic cause of human male infertility involving spermatogenetic failure. Testing for these deletions in Japanese DNA samples using conventional sequence-tagged site probes occasionally lead to considerable non-specific or faint products in the Japanese population. The aim of the present study was to evaluate the sensitivity and specificity of a newly developed kit for the detection of azoospermia factor microdeletions in the Japanese population. Methods: Sequence-tagged site probes were reselected and the Luminex suspension array assay was carried out. Validation was retrospectively carried out with 2014 DNA sequences with known microdeletions, which were divided into four categories. Results: Category1 deletions that corresponded to the conventional classification of azoospermia factor deletion were present in 83 men (4.2%), which can result in intrachromosomal homologous recombination. Kit data confirmed the presence of deletions of this type in DNA sequences known to harbor the azoospermia factor deletions. Category2 deletions involved cytogenetic abnormalities in 28 men (1.4%), whereas category3 deletions in 759 men (37.7%) were atypical classifications including the gr/gr deletion. As these deletions are thought to be a result of palindromic units and non-homologous recombination, these microdeletions might impact in the interpretation of some clinical findings. The rest of the 1145 cases (56.8%) were assigned to category4 as normal variants (polymorphism/no deletion). Conclusions: The present findings show that this new kit offers good sensitivity and specificity with the advantage of saving in terms of cost and time. © 2014 The Japanese Urological Association. | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
