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Development and application of “Catching-whole-mutations-in-genome method" that aims at health promotion activity

Research Project

Project/Area Number 17500496
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Applied health science
Research InstitutionNational Cardiovascular Center Research Institute

Principal Investigator

TAKAGI Atsuko  National Cardiovascular Center Research Institute, 薬理部, Senior staff (90179416)

Co-Investigator(Kenkyū-buntansha) IKEDA Yasuyuki  National Cardiovascular Center Research Institute, 病因部, Senior staff (90176107)
Project Period (FY) 2005 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥3,850,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥450,000)
Fiscal Year 2007: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2006: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2005: ¥900,000 (Direct Cost: ¥900,000)
Keywordsmutation / heterozygote / lipoprotein lipase / carbodiimide / heteroduplex / MutS / hyperlipidemia / hypertriglyceridemia / メタボリックシンドローム
Research Abstract

【Purpose】 Our aim is to develop a new method (“Catching-whole-mutations-in-genome method"; CWHG method) that can detect mutations of genes related to known and unknown diseases. 【Method】 Detection of heteroduplexs formed after heat treatment and slow cooling was carried out with biotinylated carbodiimide or mutation recognition protein MutS. Lipoprotein lipase (LPL) gene related to hypertriglyceridemia was used as a model. 【Result 1: Efficiency of double strand DNA (dsDNA)formation】 DNA fragment was treated with slow cooling after 5 min at 95℃. Efficiency of dsDNA formation was examined with nondenaturing gel. Most of the samples were detected as dsDNA in case of more than concentration of 0.1pmol DNA/ul. 【Result 2: Efficiency of heteroduplex formation】 Insertion mutations of four and eight bases were used to facilitate detection of heteroduplex. Efficiency of heteroduplex formation was 40%. This result was satisfactory, because maximal efficiency of heteroduplex was 50%. 【Result 3: Re … More activity between heterodupex and carbodiimide, and effect of reinforcing reagent of matching DNA region】 Specificity of reactivity between heteroduples and carbodiimide was low. Although reinforcing reagent of matching DNA region was used, the specificity was not improved. 【Result 4: Reactivity between heterodupex and MutS, and effect of reinforcing reagent of matching DNA region】 Specificity of reactivity between heteroduples and MutS was high, but all types of heteroduplex were not reacted. Reinforcing reagent of matching DNA region didn't improve this point. The G105R mutation, which was not detected at any SSCP conditions employed, was detected by reaction between heteroduplex and MutS. 【Result 5: Newly identified mutation in LPL gene】 The accumulation of new mutations is important for the establishment of CWHG method and early diagnosis of hypertriglyceridemia. Compound heterozygosity of a novel large deletion (54kb) from5' upstream region to intron 1 and Y61X in LPL gene was identified in a hypertriglyceridemic Japanese patient. Less

Report

(4 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • 2005 Annual Research Report
  • Research Products

    (50 results)

All 2007 2006 2005

All Journal Article (21 results) (of which Peer Reviewed: 4 results) Presentation (27 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] リポ蛋白リパーゼ遺伝子異常2007

    • Author(s)
      高木敦子
    • Journal Title

      内分泌・糖尿病科 24

      Pages: 313-323

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] 異常リポ蛋白血症を来す遺伝子異常2007

    • Author(s)
      池田康行
    • Journal Title

      日本臨床 65

      Pages: 128-135

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] リポ蛋白リパーゼ測定法(活性および酵素蛋白量)とその遺伝子診断法2007

    • Author(s)
      高木敦子
    • Journal Title

      日本臨床 65

      Pages: 182-190

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Lipoprotein lipase gene mutations2007

    • Author(s)
      Takagi A
    • Journal Title

      Naibunpitsu Tonyobyoka 24

      Pages: 313-323

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Genetic disorder causing dyslipoproteinemia2007

    • Author(s)
      Ikeda Y
    • Journal Title

      Nippon Rirsho 65

      Pages: 128-135

    • NAID

      40015559374

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Measurements of lipoprotein lipase (LPL) activity and immunoreactive mass, and diagnosis of LPL gene2007

    • Author(s)
      Takagi A
    • Journal Title

      Nippon Rinsho 65

      Pages: 182-190

    • NAID

      40015559385

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] リポ蛋白リパーゼ遺伝子異常2007

    • Author(s)
      高木敦子
    • Journal Title

      内分泌・糖尿病科 24巻・(4号)

      Pages: 313-323

    • Related Report
      2007 Annual Research Report
  • [Journal Article] 異常リポ蛋白血症を来す遺伝子異常2007

    • Author(s)
      池田康行
    • Journal Title

      日本臨床 65巻・増7号

      Pages: 128-135

    • Related Report
      2007 Annual Research Report
  • [Journal Article] リポ蛋白リパーゼ測定法(活性および酵素蛋白量)とその遺伝子診断法2007

    • Author(s)
      高木敦子
    • Journal Title

      日本臨床 65巻・増刊7号

      Pages: 182-190

    • Related Report
      2007 Annual Research Report
  • [Journal Article] Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese : The Suita study.2006

    • Author(s)
      Takagi A
    • Journal Title

      Atherosclerosis 7

      Pages: 16-16

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Diagnosis of lipoprotein lipase (LPL) abnormality leading to hypertriglyceridemia by measuring LPL mass in preheparin plasma with a Markit-M LPL ELIZA kit.2006

    • Author(s)
      Ikeda Y
    • Journal Title

      Atherosclerosis 7

      Pages: 497-479

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese: The Suita study.2006

    • Author(s)
      Takagi A
    • Journal Title

      Atherosclerosis 7

      Pages: 16-16

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Diagnosis of lipoprotein lipase (LPL) abnormality leading to hypertriglyceridemia by measuring LPL mass in preheparin plasma with a Markit-M LPL ELIZA kit2006

    • Author(s)
      Ikeda Y
    • Journal Title

      Atherosclerosis 7

      Pages: 497-497

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese : The Suita study.2006

    • Author(s)
      Takagi, A., Ikeda, Y., Iwai, N., Kokubo, Y., Tomoike, H.
    • Journal Title

      Atherosclerosis 7(No.3)

      Pages: 16-16

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Diagnosis of lipoprotein lipase (LPL) abnormality leading to hypertriglyceridemia by measuring LPL mass in preheparin plasma with a Markit-M LPL ELIZA kit.2006

    • Author(s)
      Ikeda, Y., Takagi, A., Nishimura, M., Iwanaga, T., Ohkaru, Y.
    • Journal Title

      Atherosclerosis 7(No.3)

      Pages: 497-497

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Detection of lipoprotein lipase (LPL) gene mutations in Japanese by asingle-strand conformation polymorphism (SSCP)method2005

    • Author(s)
      Takagi A
    • Journal Title

      Atherosclerosis Supplements 6

      Pages: 170-170

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Identification of two novel missense mutations (S251F and C283S) in exon 6 of the lipoprotein lipase gene in Japanese subjects2005

    • Author(s)
      Ikeda Y
    • Journal Title

      Atherosclerosis Supplements 6

      Pages: 166-166

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Detection of lipoprotein lipase (LPL) gene mutations in Japanese by a single-strand conformation polymorphism (SSCP) method2005

    • Author(s)
      Takagi A
    • Journal Title

      Atherosclerosis 6

      Pages: 170-170

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Identification of two novel missense mutations (S251F and C283S) in exon 6 of the lipoprotein lipase gene in Japanese subjects2005

    • Author(s)
      Ikeda Y
    • Journal Title

      Atherosclerosis 6

      Pages: 166-166

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Detection of lipoprotein lipase (LPL) gene mutations in Japanese by a single-strand conformation polymorphism (SSCP) method2005

    • Author(s)
      A.Takagi, T.Matsumoto, T.Iwanaga, Y.Ikeda
    • Journal Title

      Atherosclerosis Supplements 6(1)

      Pages: 170-170

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Identification of two novel missense mutations (S251F and C283S) in exon 6 of the lipoprotein lipase gene in Japanese subjects2005

    • Author(s)
      Y.Ikeda, T.Iwanaga, A.Takagi
    • Journal Title

      Atherosclerosis Supplements 6(1)

      Pages: 166-166

    • Related Report
      2005 Annual Research Report
  • [Presentation] リポ蛋白リパーゼ(LPL)遺伝子新規巨大欠失変異(上流部分とイントロン1の一部までを含む約54 kbの欠失)とY61Xの複合型ヘテロ接合性の高トリグリセリド血症者からの同定2007

    • Author(s)
      高木敦子
    • Organizer
      第30回 日本分子生物学会年会&第80回 日本生化学会大会 合同大会
    • Place of Presentation
      横浜
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 高トリグリセリド血症者から新規巨大リポ蛋白リパーゼ(LPL)遺伝子欠失変異の同定 : 上流部分とイントロン1め一部までを含む約54 kbの欠失2007

    • Author(s)
      高木敦子
    • Organizer
      第39回 日本動脈硬化学会総会
    • Place of Presentation
      大阪
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Identification of compound heterozygosity of a novel large deletion (54 kb) from 5' upstream region to intron 1 and Y61X in the lipoprotein lipase gene from a Japanese hypertriglyceridemic subject2007

    • Author(s)
      Takagi A
    • Organizer
      The 30th annual meeting of the Molecular Biology Society of Japan and The 80th annual meeting of the Japanese Biochemical Society (Joint meeting)
    • Place of Presentation
      Yokohama
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Identification of a novel large deletion (54 kb) variation encompassing from 5' upstream region to intron 1 of the lipoprotein lipase gene in a Japanese hypertriglyceridemic subject2007

    • Author(s)
      Takagi A
    • Organizer
      The 39th annual meeting of Japan Atherosclerosis Society
    • Place of Presentation
      Osaka
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] リポ蛋白リパーゼ(LPL)遺伝子新規巨大欠失変異(上流部分とイントロン1の一部までを含む約54kbの欠失)とY61Xの複合型ヘテロ接合性の高トリグリセリド血症者からの同定2007

    • Author(s)
      高木敦子
    • Organizer
      第30回 日本分子生物学会年会&第80回 日本生化学会大会 合同大会
    • Place of Presentation
      横浜
    • Related Report
      2007 Annual Research Report
  • [Presentation] 高トリグリセリド血症者から新規巨大リポ蛋白リパーゼ(LPL)遺伝子欠失変異の同定:上流部分とイントロン1の一部までを含む約54kbの欠失2007

    • Author(s)
      高木敦子
    • Organizer
      第39回 日本動脈硬化学会総会
    • Place of Presentation
      大阪
    • Related Report
      2007 Annual Research Report
  • [Presentation] リポ蛋白リパーゼ(LPL)遺伝子エキソン6上の新規変異S251FとC283Sの高トリグリセリド血症者からの同定2006

    • Author(s)
      高木敦子
    • Organizer
      第38回 日本動脈硬化学会総会
    • Place of Presentation
      東京
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Diagnosis of lipoprotein lipase (LPL) abnormality leading to hypertriglyceridemia by measuring LPL mass in preheparin plasma with a Markit-M LPL ELIZA kit.2006

    • Author(s)
      Ikeda Y
    • Organizer
      XIV International Symposium on Atherosclerosis
    • Place of Presentation
      Rome (Italy)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese : The Suita study.2006

    • Author(s)
      Takagi A
    • Organizer
      XIV International Symposium on Atherosclerosis
    • Place of Presentation
      Rome (Italy)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] High-throughput single-strand conformation polymorphism analysis of an LPLgene mutation by temperature-controlled on -chip capillary electrophoresis.2006

    • Author(s)
      Ono K
    • Organizer
      International Conference on Microtechnologies in Medicine and Biology.
    • Place of Presentation
      Okinawa (Japan)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Newly identified lipoprotein lipase (LPL) gene mutations (S251F and C283S) in Japanese hypertriglyceridemic patients2006

    • Author(s)
      Takagi A
    • Organizer
      The 38th annual meeting of Japan Atherosclerosis Society
    • Place of Presentation
      Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese: The Suita study.2006

    • Author(s)
      Takagi A
    • Organizer
      XIV International Symposium on Atherosclerosis
    • Place of Presentation
      Rome (Italy)
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] High-throughput single-strand conformation polymorphism analysis of an LPL gene mutation by temperature-controlled on -chip capillary electrophoresis.2006

    • Author(s)
      Ono K
    • Organizer
      International Conference on Microtechnologies in Medicine and BioIogy
    • Place of Presentation
      Okinawa (Japan)
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Measurement of lipoprotein lipase (LPL) mass in preheparin plasma with a MARKIT-M LPL ELISA kit : application to the diagnosis of LPL abnormality leading to hypertriglyceridemia2005

    • Author(s)
      Ikeda Y
    • Organizer
      第28回日本分子生物学会大会
    • Place of Presentation
      福岡
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Measurement of lipoprotein lipase (LPL) mass in preheparin plasma iseffective for the diagnosis of LPL abnormality leading to hypertriglyceridemia2005

    • Author(s)
      Ikeda Y
    • Organizer
      第78回日本生化学会大会
    • Place of Presentation
      神戸
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Newly identified lipoprotein lipase (LPL) gene mutations (S251F and C283S)in Japanese patients with hypertriglyceridemia2005

    • Author(s)
      Takagi A
    • Organizer
      第78回日本生化学会大会
    • Place of Presentation
      神戸
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 日本人一般集団におけるリポ蛋白リパーゼ(LPL)遺伝子変異の頻度 : 吹田研究2005

    • Author(s)
      高木敦子
    • Organizer
      第37回 日本動脈硬化学会総会
    • Place of Presentation
      東京
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Novel missense mutations (S251F and C283S) in exon 6 of the lipoproteinlipase gene in Japanese2005

    • Author(s)
      keda, Y
    • Organizer
      The 75th European Atherosclerosis Society Congress
    • Place of Presentation
      Prague (CZECH)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Detection system of lipoprotein lipase (LPL) gene mutations in Japaneseby a single-strand conformation polymorphism (SSCP) method2005

    • Author(s)
      Takagi A
    • Organizer
      The 75th European Atherosclerosis Society Congress
    • Place of Presentation
      Prague (CZECH)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Clinical significance of measuring lipoprotein lipase (LPL) mass in preheparin plasma for the diagnosis of LPL abnormality.2005

    • Author(s)
      Ikeda Y
    • Organizer
      TG 2005 2nd International Symposium on Triglycerides and HDL : Role in Cardiovascular Disease and the Metabolic Symdrome
    • Place of Presentation
      New York (USA)
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Measurement of I ipoprotein I ipase (LPL) mass in preheparin plasma with a MARK IT-M LPL ELISA kit: application to the diagnosis of LPL abnormality leading to hypertriglyceridemia2005

    • Author(s)
      Ikeda Y
    • Organizer
      The 28th annual meeting of the Molecular Biology Society of Japan
    • Place of Presentation
      Fukuoka
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Measurement of I ipoprotein lipase (LPL) mass in preheparin plasma is effective for the diagnosis of LPL abnormality leading to hypertriglyceridemia2005

    • Author(s)
      Ikeda Y
    • Organizer
      The 78th annual meeting of the Japanese Biochemical Society
    • Place of Presentation
      Kobe
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Newly identified lipoprotein lipase (LPL) gene mutations (S251F and C283S) in Japanese patients with hypertriglyceridemia2005

    • Author(s)
      Takagi A
    • Organizer
      The 78th annual meeting of the Japanese Biochemical Society
    • Place of Presentation
      Kobe
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Frequency of Lipoprotein Lipase Gene Mutations in the General Population of Japanese: the Suita Study2005

    • Author(s)
      Takagi A
    • Organizer
      The 37th annual meeting of Japan Atherosclerosis Society
    • Place of Presentation
      Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Novel missense mutations (S251F and C283S) in exon 6 of the lipoprotein lipase gene in Japanese2005

    • Author(s)
      Ikeda Y
    • Organizer
      The 75th European Atherosclerosis Society Congress
    • Place of Presentation
      Prague (CZECH)
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Detection system of lipoprotein lipase (LPL) gene mutations in Japanese by a single-strand conformation polymorphism (SSCP) method2005

    • Author(s)
      Takagi A
    • Organizer
      The 75th European Atherosclerosis Society Congress
    • Place of Presentation
      Prague (CZECH)
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Clinical significance of measuring lipoprotein lipase (LPL) mass in preheparin plasma for the diagnosis of LPL abnormality.2005

    • Author(s)
      Ikeda Y
    • Organizer
      TG 2005 2nd International Symposium on Triglycerides and HDL: Role in Cardiovascular Disease and the Metabolic Symdrome
    • Place of Presentation
      New York (USA)
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Patent(Industrial Property Rights)] 高トリグリセリド血症の成因となる新規リポタンパクリパーゼ(LPL)遺伝子欠失変異及びそれを利用した高トリグリセリド血症を診断するためのLPL変異検出キット2007

    • Inventor(s)
      高木敦子, 池田康行
    • Industrial Property Rights Holder
      同左
    • Industrial Property Number
      2007-181489
    • Filing Date
      2007-06-12
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Patent(Industrial Property Rights)] 高トリグリセリド血症の成因となる新規リポタンパクリパーゼ(LPL)遺伝子欠失変異及びそれを利用した高トリグリセリド血症を診断するためのLPL変異検出キット2007

    • Inventor(s)
      高木敦子、池田康行
    • Industrial Property Rights Holder
      高木敦子、池田康行
    • Industrial Property Number
      2007-181489
    • Filing Date
      2007-06-12
    • Related Report
      2007 Annual Research Report

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Published: 2005-04-01   Modified: 2016-04-21  

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