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    • 1. 发明申请
    • MULTIPLEXED METHOD FOR THE IDENTIFICATION AND QUANTITATION OF MINOR ALLELES AND POLYMORPHISMS
    • 用于识别和量化小分子和多态性的多重方法
    • WO2016172571A1
    • 2016-10-27
    • PCT/US2016/028971
    • 2016-04-22
    • AGENA BIOSCIENCE, INC.
    • NYGREN, Anders, Olof Herman
    • C12Q1/68
    • C12Q1/6858C12Q1/6827C12Q1/686C12Q2525/186C12Q2527/137C12Q2535/125C12Q2537/143C12Q2545/101
    • Provided herein are products and processes for detecting the presence or absence of minor nucleic acid species in a sample containing a mixture of minor nucleic acid species and one or more major nucleic acid species, where the amount (frequency or copy number) of the minor nucleic acid species is less than that of the major nucleic acid species. Certain methods include amplifying the mixture and extending the resulting amplicons using chain terminating reagents and extension primers that specifically hybridize to the amplicons, where a chain terminating reagent specific for the major nucleic acid species has a concentration that is less than a chain terminating reagent that is specific for a minor nucleic acid species. Skewing the concentrations of the chain terminating reagents in favor of high concentrations of the chain terminating reagents specific for the minor nucleic acid species relative to a chain terminating reagent specific for a major nucleic acid species improves the detection limit (sensitivity) of detecting minor nucleic acid species present at low frequency or copy number in the mixture. In addition, the signals generated from the extension product of the major nucleic acid species amplicon can serve as a positive control and permit quantification of the minor nucleic acid species relative to the major nucleic acid species in the mixture.
    • 本文提供了用于检测含有次要核酸物种和一种或多种主要核酸物质的混合物的样品中存在或不存在次要核酸物质的产物和方法,其中次要核酸的量(频率或拷贝数) 酸性物种比主要核酸物种少。 某些方法包括扩增混合物并使用链终止试剂和与扩增子特异性杂交的延伸引物延伸得到的扩增子,其中主要核酸物种特异性的链终止试剂的浓度小于链终止试剂 对于次要核酸物种具有特异性。 扭转链终止试剂的浓度有利于高浓度的针对次要核酸物种特异性的链终止试剂相对于主要核酸物种特异性的链终止试剂,提高检测次要核酸的检测限(灵敏度) 混合物中存在低频或拷贝数的物种。 此外,从主要核酸种类扩增子的延伸产物产生的信号可以用作阳性对照,并且允许相对于混合物中主要核酸物质对次要核酸物质进行定量。
    • 3. 发明申请
    • METHODS AND COMPOSITIONS FOR THE QUANTITATION OF MITOCHONDRIAL NUCLEIC ACID
    • 用于量子化学核酸的方法和组合物
    • WO2017049180A1
    • 2017-03-23
    • PCT/US2016/052279
    • 2016-09-16
    • AGENA BIOSCIENCE, INC.
    • NYGREN, Anders Olof Herman
    • C12Q1/68
    • C12Q1/6851C12Q1/6858C12Q2600/156
    • Provided herein are products and processes for the quantitation of mitochondrial nucleic acid in a sample from a subject. In certain aspects are multiplex methods for determining dosage of mitochondrial nucleic acid relative to genomic nucleic acid for a sample from a subject including amplifying sets of mitochondrial polynucleotides and genomic polynucleotides from nucleic acid for a sample under amplification conditions. In certain aspects are multiplex methods for determining dosage of mitochondrial nucleic acid relative to genomic nucleic acid for a sample from a subject including amplifying sets of mitochondrial polynucleotides and amplifying sets of nuclear polynucleotides from nucleic acid for a sample under amplification conditions.
    • 本文提供了用于定量来自受试者的样品中的线粒体核酸的产物和方法。 在某些方面是用于确定线粒体核酸相对于来自受试者的样品的线粒体核酸的剂量的多重方法,包括在扩增条件下用于样品的线粒体多核苷酸和来自核酸的基因组多核苷酸组。 在某些方面是用于确定线粒体核酸相对于来自受试者的样品的线粒体核酸的剂量的多重方法,所述样品包括放大线粒体多核苷酸组和在扩增条件下用于来自核酸的核多核苷酸的扩增组。