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    • 57. 发明授权
    • Means and methods for the determination of (D)-2-hydroxyglutarate (D2HG) or (D)-2-hydroxyadipic acid
    • 用于测定(D)-2-羟基戊二酸(D2HG)或(D)-2-羟基己二酸的方法和方法
    • US09487815B2
    • 2016-11-08
    • US14381835
    • 2013-03-01
    • DKFZ Deutsches KrebsforschungszentrumRuprecht-Karls-Universität Heidelberg
    • Jörg BalssStefan PuschAndreas Von DeimlingWolfgang Buckel
    • C12Q1/32G01N33/574
    • C12Q1/32C12Q2326/00G01N33/57407G01N2333/904G01N2458/15G01N2800/046G01N2800/22G01N2800/28
    • The present invention relates to a method for detecting (D)-2-hydroxyglutarate or (D)-2-hydroxyadipic acid in a sample, the method comprising the steps of: a) contacting a sample with a reagent mixture, wherein said reagent mixture comprises: (i) a solvent, (ii) a dye having an oxidized state and a reduced state, wherein the reduced state can be distinguished from the oxidized state and wherein the dye is initially present in the oxidized state, (iii) an electron transfer agent, (iv) a (D)-2-hydroxyglutarate dehydrogenase enzyme, and (v) a cofactor; and b) detecting (D)-2-hydroxyglutarate or (D)-2-hydroxyadipic acid by measuring the production of the reduced state of the dye. The invention further pertains to a method for diagnosing and/or monitoring a (D)-2-hydroxy-glutarate-associated disease in a subject. Encompassed by the invention is also a method for diagnosing a mutation in an isocitrate dehydrogenase (IDH) gene or in a (D)-2-hydroxyglutarate (D2HG) dehydrogenase enzyme gene in a subject. In addition, the invention provides for a kit comprising (i) a solvent, (ii) a dye having an oxidized state and a reduced state, wherein the reduced state can be distinguished from the oxidized state and wherein the dye is initially present in the oxidized state, (iii) an electron transfer agent, (iv) a (D)-2-hydroxyglutarate dehydrogenase enzyme, and (v) a cofactor.
    • 本发明涉及一种用于检测样品中(D)-2-羟基戊二酸或(D)-2-羟基己二酸的方法,所述方法包括以下步骤:a)使样品与试剂混合物接触,其中所述试剂混合物 包括:(i)溶剂,(ii)具有氧化态和还原状态的染料,其中还原态可以与氧化态区别,其中染料最初以氧化态存在,(iii)电子 转移剂,(iv)(D)-2-羟基戊二酸脱氢酶,和(v)辅因子; 和b)通过测量染料的还原状态的产生来检测(D)-2-羟基戊二酸或(D)-2-羟基己二酸。 本发明还涉及用于诊断和/或监测受试者中(D)-2-羟基 - 戊二酸酯相关疾病的方法。 本发明所涉及的也是用于诊断受试者的异柠檬酸脱氢酶(IDH)基因或(D)-2-羟基戊二酸(D2HG)脱氢酶基因中的突变的方法。 另外,本发明提供了一种试剂盒,其包含(i)溶剂,(ii)具有氧化态和还原状态的染料,其中还原态可以与氧化态区别,并且其中染料最初存在于 氧化态,(iii)电子转移剂,(iv)(D)-2-羟基戊二酸脱氢酶,和(v)辅助因子。
    • 59. 发明申请
    • MEANS AND METHODS FOR THE DETERMINATION OF (D)-2-HYDROXYGLUTARATE (D2HG) OR (D)-2-HYDROXYADIPIC ACID
    • 用于测定(D)-2-羟基甘油(D2HG)或(D)-2-羟基乙酸的方法和方法
    • US20150044716A1
    • 2015-02-12
    • US14381835
    • 2013-03-01
    • DKFZ Deutsches KrebsforschungszentrumRuprecht-Karls-Universität Heidelberg
    • Jörg BalssStefan PuschAndreas Von DeimlingWolfgang Buckel
    • C12Q1/32
    • C12Q1/32C12Q2326/00G01N33/57407G01N2333/904G01N2458/15G01N2800/046G01N2800/22G01N2800/28
    • The present invention relates to a method for detecting (D)-2-hydroxyglutarate or (D)-2-hydroxyadipic acid in a sample, the method comprising the steps of: a) contacting a sample with a reagent mixture, wherein said reagent mixture comprises: (i) a solvent, (ii) a dye having an oxidized state and a reduced state, wherein the reduced state can be distinguished from the oxidized state and wherein the dye is initially present in the oxidized state, (iii) an electron transfer agent, (iv) a (D)-2-hydroxyglutarate dehydrogenase enzyme, and (v) a cofactor; and b) detecting (D)-2-hydroxyglutarate or (D)-2-hydroxyadipic acid by measuring the production of the reduced state of the dye. The invention further pertains to a method for diagnosing and/or monitoring a (D)-2-hydroxy-glutarate-associated disease in a subject. Encompassed by the invention is also a method for diagnosing a mutation in an isocitrate dehydrogenase (IDH) gene or in a (D)-2-hydroxyglutarate (D2HG) dehydrogenase enzyme gene in a subject. In addition, the invention provides for a kit comprising (i) a solvent, (ii) a dye having an oxidized state and a reduced state, wherein the reduced state can be distinguished from the oxidized state and wherein the dye is initially present in the oxidized state, (iii) an electron transfer agent, (iv) a (D)-2-hydroxyglutarate dehydrogenase enzyme, and (v) a cofactor.
    • 本发明涉及一种用于检测样品中(D)-2-羟基戊二酸或(D)-2-羟基己二酸的方法,所述方法包括以下步骤:a)使样品与试剂混合物接触,其中所述试剂混合物 包括:(i)溶剂,(ii)具有氧化态和还原状态的染料,其中还原态可以与氧化态区别,其中染料最初以氧化态存在,(iii)电子 转移剂,(iv)(D)-2-羟基戊二酸脱氢酶,和(v)辅因子; 和b)通过测量染料的还原状态的产生来检测(D)-2-羟基戊二酸或(D)-2-羟基己二酸。 本发明还涉及用于诊断和/或监测受试者中(D)-2-羟基 - 戊二酸酯相关疾病的方法。 本发明所涉及的也是用于诊断受试者的异柠檬酸脱氢酶(IDH)基因或(D)-2-羟基戊二酸(D2HG)脱氢酶基因中的突变的方法。 另外,本发明提供了一种试剂盒,其包含(i)溶剂,(ii)具有氧化态和还原状态的染料,其中还原态可以与氧化态区别,并且其中染料最初存在于 氧化态,(iii)电子转移剂,(iv)(D)-2-羟基戊二酸脱氢酶,和(v)辅助因子。