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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

http://hdl.handle.net/20.500.12000/45970
http://hdl.handle.net/20.500.12000/45970
c7671878-31ce-480c-b85b-e63c228470f9
名前 / ファイル ライセンス アクション
mgg3.883.pdf mgg3.883.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-06-02
タイトル
タイトル Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
言語 en
作成者 Yamamura, Tomohiko

× Yamamura, Tomohiko

en Yamamura, Tomohiko

Nozu, Kandai

× Nozu, Kandai

en Nozu, Kandai

Minamikawa, Shogo

× Minamikawa, Shogo

en Minamikawa, Shogo

Horinouchi, Tomoko

× Horinouchi, Tomoko

en Horinouchi, Tomoko

Sakakibara, Nana

× Sakakibara, Nana

en Sakakibara, Nana

Nagano, China

× Nagano, China

en Nagano, China

Aoto, Yuya

× Aoto, Yuya

en Aoto, Yuya

Ishiko, Shinya

× Ishiko, Shinya

en Ishiko, Shinya

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

Shima, Yuko

× Shima, Yuko

en Shima, Yuko

Nagase, Hiroaki

× Nagase, Hiroaki

en Nagase, Hiroaki

Rossanti, Rini

× Rossanti, Rini

en Rossanti, Rini

Ye, Ming J.

× Ye, Ming J.

en Ye, Ming J.

Nozu, Yoshimi

× Nozu, Yoshimi

en Nozu, Yoshimi

Ishimori, Shingo

× Ishimori, Shingo

en Ishimori, Shingo

Morisada, Naoya

× Morisada, Naoya

en Morisada, Naoya

Kaito, Hiroshi

× Kaito, Hiroshi

en Kaito, Hiroshi

Iijima, Kazumoto

× Iijima, Kazumoto

en Iijima, Kazumoto

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
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
主題
言語 ja
主題Scheme Other
主題 next‐generation sequencing
言語 ja
主題Scheme Other
主題 podocyte‐related gene
内容記述
内容記述タイプ Other
内容記述 Background: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐ line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive screening have been published. Methods: In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next‐generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group). Results: In the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes, NPHS1 and EYA1. Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the Sanger group were analyzed by NGS; three were diagnosed with AS. Two had mutations in CLCN5 or LAMB2. The final variant detection rate was 90%. Discussion: Our results reveal that Sanger sequencing and targeted exome sequencing have high diagnostic ability. NGS also has the advantage of detecting other inherited kidney diseases and pathogenic mutations missed by Sanger sequencing.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Wiley
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45970
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/mgg3.883
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/mgg3.883
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2324-9269
収録物名
言語 en
収録物名 Molecular Genetics & Genomic Medicine
書誌情報
巻 7, 号 9
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