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

以健康促进活动为目的的“捕捉基因组整体突变法”的开发及应用

基本信息

项目摘要

【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
【目的】建立一种能够检测已知和未知疾病相关基因突变的新方法(catch -whole-mutations-in-genome method; CWHG method)。【方法】用生物素化碳二亚胺或突变识别蛋白MutS检测热处理后缓慢冷却形成的异源双工。以高甘油三酯血症相关的脂蛋白脂肪酶(LPL)基因为模型。【结果1:双链DNA (dsDNA)的形成效率】DNA片段在95℃下缓慢冷却5 min。用非变性凝胶检测了dsDNA的形成效率。当DNA浓度大于0.1pmol /ul时,大多数样品被检测为dsDNA。【结果2:异双工的形成效率】利用4个和8个碱基的插入突变促进了异双工的检测。异双相的形成效率为40%。结果令人满意,因为异双工的最大效率为50%。【结果3】异二聚体与碳二亚胺之间的反应性特异性较低。虽然采用了匹配区增强试剂,但特异性没有提高。【结果4:异双工与MutS的反应性及匹配DNA区域增强试剂的作用】异双工与MutS的反应性特异性高,但所有类型的异双工均未发生反应。匹配区增强剂对这一点没有改善作用。G105R突变在任何SSCP条件下都未被检测到,通过异双工和MutS之间的反应检测到。【结果5:LPL基因新发现突变】新突变的积累对CWHG方法的建立和高甘油三酯血症的早期诊断具有重要意义。在一名日本高甘油三酯血症患者的LPL基因5'上游区域发现了一个新的大缺失(54kb)到内含子1和Y61X的复合杂合性。少

项目成果

期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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
一种导致高甘油三酯血症的新型脂蛋白脂肪酶(LPL)基因缺失突变以及利用该突变诊断高甘油三酯血症的LPL突变检测试剂盒
  • DOI:
  • 发表时间:
    2007
  • 期刊:
  • 影响因子:
    0
  • 作者:
  • 通讯作者:
Genetic disorder causing dyslipoproteinemia
导致异常脂蛋白血症的遗传性疾病
  • DOI:
  • 发表时间:
    2007
  • 期刊:
  • 影响因子:
    0
  • 作者:
    岩谷 力;黒澤 尚;黒澤 尚;黒澤 尚;黒澤 尚;Kurosawa H.;黒澤 尚;黒澤 尚;Kurosawa H.;高木敦子;池田康行;高木敦子;Takagi A;Ikeda Y
  • 通讯作者:
    Ikeda Y
Frequency of heterozygous lipoprotein lipase (LPL) defieicency in the general population of Japanese: The Suita study.
日本普通人群中杂合脂蛋白脂肪酶 (LPL) 缺乏的频率:Suita 研究。
  • DOI:
  • 发表时间:
    2006
  • 期刊:
  • 影响因子:
    0
  • 作者:
    岩谷 力;黒澤 尚;黒澤 尚;黒澤 尚;黒澤 尚;Kurosawa H.;黒澤 尚;黒澤 尚;Kurosawa H.;高木敦子;池田康行;高木敦子;Takagi A;Ikeda Y;Takagi A;高木敦子;池田康行;高木敦子;Takagi A;Ikeda Y;Takagi A
  • 通讯作者:
    Takagi A
Newly identified lipoprotein lipase (LPL) gene mutations (S251F and C283S)in Japanese patients with hypertriglyceridemia
日本高甘油三酯血症患者中新发现的脂蛋白脂肪酶 (LPL) 基因突变(S251F 和 C283S)
  • DOI:
  • 发表时间:
    2005
  • 期刊:
  • 影响因子:
    0
  • 作者:
    高木敦子;高木敦子;高木敦子;Ikeda Y;Takagi A;Ono K;Takagi A;Takagi A;Ono K;Ikeda Y;Ikeda Y;Takagi A
  • 通讯作者:
    Takagi A
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 subject
鉴定日本高甘油三酯血症受试者脂蛋白脂肪酶基因中从 5 上游区域到内含子 1 和 Y61X 的新型大缺失 (54 kb) 的复合杂合性
  • DOI:
  • 发表时间:
    2007
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Y.Ikeda;T.Iwanaga;A.Takagi;高木敦子;高木敦子;Takagi A
  • 通讯作者:
    Takagi A
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TAKAGI Atsuko其他文献

TAKAGI Atsuko的其他文献

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{{ truncateString('TAKAGI Atsuko', 18)}}的其他基金

Development and its application of the comprehensive analysis system to hypertriglyceridemia: mainly on nongenetic factors
高甘油三酯血症综合分析系统的开发及其应用:以非遗传因素为主
  • 批准号:
    24500883
  • 财政年份:
    2012
  • 资助金额:
    $ 2.46万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Development and the application of a comprehensive cause-analysis system for hypertriglyceridemia that is a risk factor for coronary heart disease
冠心病危险因素高甘油三酯血症综合原因分析系统的开发与应用
  • 批准号:
    21500702
  • 财政年份:
    2009
  • 资助金额:
    $ 2.46万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Establishment of personal protection method for life-style diseases : type IV hyperlipoproteinemia as a model case
生活方式病个体防护方法的建立——以IV型高脂蛋白血症为典型病例
  • 批准号:
    11670402
  • 财政年份:
    1999
  • 资助金额:
    $ 2.46万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Elucidation of an underlying etiology of atherogenic type IV hyperlipoproteinemia and development of its genetic diagnostic method
阐明致动脉粥样硬化 IV 型高脂蛋白血症的潜在病因及其遗传诊断方法的开发
  • 批准号:
    06670179
  • 财政年份:
    1994
  • 资助金额:
    $ 2.46万
  • 项目类别:
    Grant-in-Aid for General Scientific Research (C)

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