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遺伝子検査の社会的要請に応じた簡便な遺伝子変異スクリーニング法の開発と普及

Research Project

Project/Area Number 22591122
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKanazawa University

Principal Investigator

NIIDA Yo  金沢大学, 子どものこころの発達研究センター, 准教授 (40293344)

Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords遺伝子診断 / 酵素ミスマッチ法 / MLPA法 / 遺伝子診
Research Abstract

In Japan, many clinicians consider DNA diagnosis is one of the clinical laboratory test. However, because of high cost and requirement of special instruments, DNA diagnosis is not come into wide use. In this study, we developed CHIPStechnology as simple, accurate and low cost mutation screening system. We set up CHIPS system to 60 genetic diseases, including 73 genes and demonstrated its utility. We hopespread gene tests by CHIPS among Japanese patients in near feature.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (24 results)

All 2013 2012 2011 2010 Other

All Journal Article (8 results) (of which Peer Reviewed: 8 results) Presentation (13 results) Remarks (3 results)

  • [Journal Article] Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.2013

    • Author(s)
      Niida Y, Wakisaka A, Tsuji T, Yamada H, Kuroda M, Mitani Y, Okumura A, Yokoi A.
    • Journal Title

      J Hum Genet

      Volume: Epub ahead of print Issue: 4 Pages: 216-225

    • DOI

      10.1038/jhg.2013.3

    • NAID

      10031169423

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis2012

    • Author(s)
      Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A
    • Journal Title

      Mol Genet Metab(3)

      Volume: 107 Pages: 580-5

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy2012

    • Author(s)
      Niida Y, Kuroda M, Mitani Y, Yokoi A, Ozaki M
    • Journal Title

      J Hum Genet

      Volume: 57 Issue: 10 Pages: 687-90

    • DOI

      10.1038/jhg.2012.97

    • NAID

      10031122251

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis2012

    • Author(s)
      Niida Y
    • Journal Title

      Mol Genet Metab

      Volume: 107 Issue: 3 Pages: 580-5

    • DOI

      10.1016/j.ymgme.2012.09.008

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of acute encephalopathy with hemophagocytic lymphoh istiocytosis and clonal T-cell expansion2012

    • Author(s)
      Wada T, Nishiura K, Kuroda M, Asai E, Vu QV, Toma T, Niida Y, Yachie A
    • Journal Title

      Brain Dev

      Volume: 34 Issue: 5 Pages: 376-379

    • DOI

      10.1016/j.braindev.2011.07.005

    • NAID

      10031050761

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome2011

    • Author(s)
      Yoshimura Y, Nishijima C, Ikeda Kikeda K, Niida Y, Inaoki M.
    • Journal Title

      Eur J Dermatol

      Volume: 21 Issue: 6 Pages: 1022-3

    • DOI

      10.1684/ejd.2011.1542

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dube症候群の姉弟例2011

    • Author(s)
      中川研, 北楯祥子, 齋藤雅俊, 藤本由貴, 小島好司, 及川卓, 土原一貴, 井口晶晴, 黄寿正, 長内和弘, 栂博久, 新井田要
    • Journal Title

      臨床放射線

      Volume: 56 Pages: 133-137

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Birt-Hogg-Dube症候群の姉弟例2011

    • Author(s)
      中川研, 北楯祥子, 長内和弘, 栂博久, 新井田要
    • Journal Title

      臨床放射線

      Volume: 56(1) Pages: 133-137

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] 母由来7番染色体部分片親性ダイソミーにより発症した遠位尿細管性アシドーシスの1例2012

    • Author(s)
      新井田要, 高瀬悦子,尾崎守,黒田文人,三谷裕介,上野和之,清水正樹
    • Organizer
      第33回北陸臨床遺伝研究会
    • Place of Presentation
      福井商工会議所ビル(福井県)
    • Year and Date
      2012-11-23
    • Related Report
      2012 Final Research Report
  • [Presentation] 遺伝子検査におけるアレル発現テストの意義について2012

    • Author(s)
      新井田要、伊藤順庸、高瀬悦子、尾崎守、黒田文人、三谷裕介
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル(東京都)
    • Year and Date
      2012-10-26
    • Related Report
      2012 Final Research Report
  • [Presentation] 父親由来片親性ダイソミーにより発症した後期乳児型異染性白質ジストロフィ-の一例2012

    • Author(s)
      新井田要(4) 池野郁、横井彩乃、三谷裕介、黒田文人、, 黒田文人,三谷裕介,横井彩乃,池野郁
    • Organizer
      第54回日本小児神経学会
    • Place of Presentation
      ロイトン札幌(北海道)
    • Year and Date
      2012-05-17
    • Related Report
      2012 Final Research Report
  • [Presentation] 新生児期よりdysostosis multiplexを呈し、I-cell病と診断された1例2012

    • Author(s)
      池野郁、横井彩乃、三谷裕介、黒田文人、, 黒田文人,三谷裕介,横井彩乃,池野郁.父親由来片親性ダイソミーにより発症した後期乳児型異染性白質ジストロフィ-の一例,第54回日本小児神経学会,2012年5月17日,ロイトン札幌(北海道)新井田要
    • Organizer
      第61回日本小児神経学会北陸地方会
    • Place of Presentation
      金沢駅西健康ホール(石川県)
    • Year and Date
      2012-02-05
    • Related Report
      2012 Final Research Report
  • [Presentation] MAP7D2はヒトX染色体上の母性刷り込み遺伝子である2011

    • Author(s)
      新井田要
    • Organizer
      第56回日本人類遺伝学会
    • Place of Presentation
      幕張メッセ(千葉県)
    • Year and Date
      2011-11-11
    • Related Report
      2012 Final Research Report
  • [Presentation] MAP7D2 (Microtuble-associated protein 7 domain containing 2)はヒトX染色体上の母性刷り込み遺伝子である2011

    • Author(s)
      新井田要
    • Organizer
      第56回日本人類遺伝学会
    • Place of Presentation
      幕張メッセ(千葉県)
    • Year and Date
      2011-11-11
    • Related Report
      2011 Annual Research Report
  • [Presentation] 日本人結節性硬化症患者のTSC遺伝子解析2011

    • Author(s)
      新井田要(7), 黒田文人, 脇坂晃子, 辻隆範
    • Organizer
      第53回日本小児神経学会
    • Place of Presentation
      パシフィコ横浜(神奈川県)
    • Year and Date
      2011-05-27
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] コラーゲン異常症の遺伝子診断:CHIPSの応2011

    • Author(s)
      新井田要
    • Organizer
      第59回日本小児神経学会北陸地方会
    • Place of Presentation
      金沢駅西健康ホール(石川県)
    • Year and Date
      2011-02-06
    • Related Report
      2012 Final Research Report
  • [Presentation] コラーゲン異常症の遺伝子診断:CHIPSの応用2011

    • Author(s)
      新井田要
    • Organizer
      日本小児神経学会北陸地方会
    • Place of Presentation
      金沢駅西健康ホール(石川県)
    • Year and Date
      2011-02-06
    • Related Report
      2010 Annual Research Report
  • [Presentation] 金沢医科大学病院遺伝子医療センターの2009年度の活動について2010

    • Author(s)
      新井田要
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      大宮ソニックシティ(埼玉県)
    • Year and Date
      2010-10-28
    • Related Report
      2012 Final Research Report 2010 Annual Research Report
  • [Presentation] 遺伝子検査におけるアレル発現テストの意義について

    • Author(s)
      新井田 要
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル(東京都)
    • Related Report
      2012 Annual Research Report
  • [Presentation] 父親由来片親性ダイソミーにより発症した後期乳児型異染性白質ジストロフィ―の一例

    • Author(s)
      新井田 要
    • Organizer
      第54回日本小児神経学会
    • Place of Presentation
      ロイトン札幌(北海道)
    • Related Report
      2012 Annual Research Report
  • [Presentation] 母由来7番染色体部分片親性ダイソミーにより発症した遠位尿細管性アシドーシスの1例

    • Author(s)
      新井田 要
    • Organizer
      第33回北陸臨床遺伝研究会
    • Place of Presentation
      福井商工会議所ビル(福井県)
    • Related Report
      2012 Annual Research Report
  • [Remarks]

    • URL

      http://chips.is-mine.net/

    • Related Report
      2012 Final Research Report
  • [Remarks] CHIPS

    • Related Report
      2012 Annual Research Report
  • [Remarks]

    • URL

      http://chips.is-mine.net/

    • Related Report
      2011 Annual Research Report

URL: 

Published: 2010-08-23   Modified: 2019-07-29  

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