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1. 发明申请

US20090181378A1 NUCLEIC ACID DETECTION COMBINING AMPLIFICATION WITH FRAGMENTATION 有权
标题翻译：核酸检测与分散放大组合
公开(公告)号：US20090181378A1
公开(公告)日：2009-07-16
申请号：US12035356
申请日：2008-02-21
申请人： Heather R. Sanders , Kevin Z. Qu , Charles M. Strom , Richard A. Bender
发明人： Heather R. Sanders , Kevin Z. Qu , Charles M. Strom , Richard A. Bender
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q1/6806 , C12Q2600/118 , C12Q2600/156 , C12Q2600/16 , C12Q2531/113 , C12Q2521/301
摘要： Provided herein are methods and compositions for detection of a nucleic acid target in a sample. The methods and compositions use primer directed amplification in conjunction with nucleic acid fragmentation. The methods have high sensitivity even in the presence of a large amount of non-target nucleic acid. Also provided are oligonucleotides and kits useful in the method. Exemplary nucleic acid targets are those with mutant gene sequence such as mutant sequence of the EGFR, APC, TMPRSS2, ERG and ETV1 genes.
摘要翻译：本文提供了用于检测样品中核酸靶的方法和组合物。该方法和组合物使用引物定向扩增与核酸碎裂相结合。即使在存在大量非靶核酸的情况下，该方法也具有高灵敏度。还提供了在该方法中有用的寡核苷酸和试剂盒。示例性核酸靶是具有突变基因序列的突变体序列，例如EGFR，APC，TMPRSS2，ERG和ETV1基因的突变序列。

2. 发明授权

US08999634B2 Nucleic acid detection combining amplification with fragmentation 有权
标题翻译：核酸检测结合扩增与碎裂
公开(公告)号：US08999634B2
公开(公告)日：2015-04-07
申请号：US12035356
申请日：2008-02-21
申请人： Heather R. Sanders , Kevin Z. Qu , Charles M. Strom , Richard A. Bender
发明人： Heather R. Sanders , Kevin Z. Qu , Charles M. Strom , Richard A. Bender
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q1/6806 , C12Q2600/118 , C12Q2600/156 , C12Q2600/16 , C12Q2531/113 , C12Q2521/301
摘要： Provided herein are methods and compositions for detection of a nucleic acid target in a sample. The methods and compositions use primer directed amplification in conjunction with nucleic acid fragmentation. The methods have high sensitivity even in the presence of a large amount of non-target nucleic acid. Also provided are oligonucleotides and kits useful in the method. Exemplary nucleic acid targets are those with mutant gene sequence such as mutant sequence of the EGFR, APC, TMPRSS2, ERG and ETV1 genes.
摘要翻译：本文提供了用于检测样品中核酸靶的方法和组合物。该方法和组合物使用引物定向扩增与核酸碎裂相结合。即使在存在大量非靶核酸的情况下，该方法也具有高灵敏度。还提供了在该方法中有用的寡核苷酸和试剂盒。示例性核酸靶是具有突变基因序列的突变体序列，例如EGFR，APC，TMPRSS2，ERG和ETV1基因的突变序列。

3. 发明授权

US08871687B2 Nucleic acid sequencing by single-base primer extension 有权
标题翻译：通过单碱基引物延伸进行核酸测序
公开(公告)号：US08871687B2
公开(公告)日：2014-10-28
申请号：US12239573
申请日：2008-09-26
申请人： Charles M. Strom
发明人： Charles M. Strom
IPC分类号： C40B30/04 , C12Q1/68
CPC分类号： C12Q1/6869 , C12Q2565/537 , C12Q2535/101
摘要： The present invention pertains to a method for determining a sequence of contiguous bases within a polynucleotide, the method relying on single-base primer extension using labeled dideoxynucleotide terminators. The primers are immobilized to solid supports (e.g. microspheres or two-dimensional arrays), allowing for the identification of the labeled terminator incorporated into each primer.
摘要翻译：本发明涉及用于确定多核苷酸内的连续碱基序列的方法，所述方法依赖于使用标记的双脱氧核苷酸终止子的单碱基引物延伸。将引物固定在固体支持物（例如微球或二维阵列）上，允许鉴定掺入每个引物中的标记终止子。

4. 发明申请

US20110143957A1 SUBTRACTIVE SINGLE LABEL COMPARATIVE HYBRIDIZATION 失效
标题翻译：简单单标签比较混合
公开(公告)号：US20110143957A1
公开(公告)日：2011-06-16
申请号：US13029041
申请日：2011-02-16
申请人： Renius Owen , Charles M. Strom
发明人： Renius Owen , Charles M. Strom
IPC分类号： C40B30/04
CPC分类号： C12Q1/6809 , C12Q2521/531 , C12Q2563/107 , C12Q2565/501
摘要： Provided are methods of determining differences between nucleic acids in a test sample and a reference sample. In certain embodiments the methods are used for detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, provided are advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples.
摘要翻译：提供了确定测试样品中的核酸与参考样品之间的差异的方法。在某些实施方案中，所述方法用于检测和绘制与各种疾病相关的染色体或遗传异常或具有各种疾病倾向性，或用于检测大规模拷贝数变体的现象。特别地，提供了执行基于阵列的比较杂交的先进方法，其允许样品之间的再现性和通过对测试样品和参照样品核酸使用相同的可检测标记来提高灵敏度。本发明方法可用于检测或诊断特定的疾病状况如癌症，并且基于染色体或遗传异常和基因表达水平的检测来检测癌症易感性。本发明的方法也可用于遗传性遗传疾病或其易感性的检测或诊断，特别是在产前样品中。

5. 发明授权

US07807359B2 Methods of detecting TPMT mutations 有权
标题翻译：检测TPMT突变的方法
公开(公告)号：US07807359B2
公开(公告)日：2010-10-05
申请号：US11566174
申请日：2006-12-01
申请人： Charles M. Strom , Feras M. Hantash
发明人： Charles M. Strom , Feras M. Hantash
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/16
摘要： Methods and compositions are described for use in the rapid and simultaneous screening of one or more samples for one or more mutations in the TPMT gene. The methods and compositions of the present invention can be used to rapidly determine if a mutation of the TPMT gene is present in the genome of a subject. Identifying which mutations are present in an individual allows the clinician to design an appropriate therapy using drugs metabolized by TPMT for that individual.
摘要翻译：描述了用于快速和同时筛选TPMT基因中一个或多个突变的一个或多个样品的方法和组合物。本发明的方法和组合物可用于快速确定TPMT基因的突变是否存在于受试者的基因组中。确定个体中存在哪些突变允许临床医生使用TPMT为该个体代谢的药物设计适当的治疗。

6. 发明授权

US08697399B2 Nucleic acid size detection method 有权
标题翻译：核酸大小检测方法
公开(公告)号：US08697399B2
公开(公告)日：2014-04-15
申请号：US12444361
申请日：2007-04-11
申请人： Donghui Huang , Charles M. Strom , Steven J. Potts , Jenny Ellen Rooke
发明人： Donghui Huang , Charles M. Strom , Steven J. Potts , Jenny Ellen Rooke
IPC分类号： C12P19/34
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2565/629 , C12Q2565/125 , C12Q2525/151
摘要： The present invention provides methods of determining the size of a particular nucleic acid segment of interest in a sample of nucleic acids through fragmentation of DNA, size fractionation, an optional second fragmentation, and identification using a marker sequence. In particular aspects, an expansion or reduction of tandem repeat sequences can be detected. In further aspects, carriers and individuals afflicted with fragile X syndrome or other diseases associated with tandem repeats can be distinguished from normal individuals.
摘要翻译：本发明提供了通过DNA的断裂，大小分级分离，任选的第二片段化和使用标记序列进行鉴定来确定核酸样品中感兴趣的特定核酸片段的大小的方法。在特定方面，可以检测到串联重复序列的扩增或减少。在另外的方面，患有脆弱X综合征或与串联重复相关的其他疾病的携带者和个体可以与正常个体区分开来。

7. 发明申请

US20090117541A1 METHODS OF DETECTING TPMT MUTATIONS 有权
标题翻译：检测TPMT突变的方法
公开(公告)号：US20090117541A1
公开(公告)日：2009-05-07
申请号：US11566174
申请日：2006-12-01
申请人： Charles M. Strom , Feras M. Hantash
发明人： Charles M. Strom , Feras M. Hantash
IPC分类号： C07H21/04 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/16
摘要： Methods and compositions are described for use in the rapid and simultaneous screening of one or more samples for one or more mutations in the TPMT gene. The methods and compositions of the present invention can be used to rapidly determine if a mutation of the TPMT gene is present in the genome of a subject. Identifying which mutations are present in an individual allows the clinician to design an appropriate therapy using drugs metabolized by TPMT for that individual.
摘要翻译：描述了用于快速和同时筛选TPMT基因中一个或多个突变的一个或多个样品的方法和组合物。本发明的方法和组合物可用于快速确定TPMT基因的突变是否存在于受试者的基因组中。确定个体中存在哪些突变允许临床医生使用TPMT为该个体代谢的药物设计适当的治疗。

8. 发明申请

US20080124709A1 Nucleic acid size detection method 失效
标题翻译：核酸大小检测方法
公开(公告)号：US20080124709A1
公开(公告)日：2008-05-29
申请号：US11544293
申请日：2006-10-05
申请人： Donghui Huang , Charles M. Strom , Steven J. Potts , Jenny Ellen Rooke
发明人： Donghui Huang , Charles M. Strom , Steven J. Potts , Jenny Ellen Rooke
IPC分类号： C12Q1/68 , G01N33/00
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2565/629 , C12Q2565/125 , C12Q2525/151
摘要： The present invention provides methods of determining the size of a particular nucleic acid segment of interest in a sample of nucleic acids through fragmentation of DNA, size fractionation, an optional second fragmentation, and identification using a marker sequence. In particular aspects, an expansion or reduction of tandem repeat sequences can be detected. In further aspects, carriers and individuals afflicted with fragile X syndrome or other diseases associated with tandem repeats can be distinguished from normal individuals.
摘要翻译：本发明提供了通过DNA的断裂，大小分级分离，任选的第二片段化和使用标记序列进行鉴定来确定核酸样品中感兴趣的特定核酸片段的大小的方法。在特定方面，可以检测到串联重复序列的扩增或减少。在另外的方面，患有脆弱X综合征或与串联重复相关的其他疾病的携带者和个体可以与正常个体区分开来。

9. 发明授权

US07892743B2 Subtractive single label comparative hybridization 有权
标题翻译：减品单标签比较杂交
公开(公告)号：US07892743B2
公开(公告)日：2011-02-22
申请号：US12392951
申请日：2009-02-25
申请人： Renius X. Owen , Charles M. Strom
发明人： Renius X. Owen , Charles M. Strom
IPC分类号： C12Q1/68 , C07H21/02 , C07H21/04
CPC分类号： C12Q1/6809 , C12Q2521/531 , C12Q2563/107 , C12Q2565/501
摘要： Provided are methods of determining differences between nucleic acids in a test sample and a reference sample. In certain embodiments the methods are used for detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, provided are advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples. Moreover, invention methods are also useful for the detection or diagnosis of de novo genetic aberrations associated with post-natal developmental abnormalities.
摘要翻译：提供了确定测试样品中的核酸与参考样品之间的差异的方法。在某些实施方案中，所述方法用于检测和绘制与各种疾病相关的染色体或遗传异常或具有各种疾病倾向性，或用于检测大规模拷贝数变体的现象。特别地，提供了执行基于阵列的比较杂交的先进方法，其允许样品之间的再现性和通过对测试样品和参照样品核酸使用相同的可检测标记来提高灵敏度。本发明方法可用于检测或诊断特定的疾病状况如癌症，并且基于染色体或遗传异常和基因表达水平的检测来检测癌症易感性。本发明的方法也可用于遗传性遗传疾病或其易感性的检测或诊断，特别是在产前样品中。此外，发明方法也可用于检测或诊断与产后发育异常相关的从头遗传畸变。

10. 发明授权

US08492089B2 Subtractive single label comparative hybridization 失效
标题翻译：减品单标签比较杂交
公开(公告)号：US08492089B2
公开(公告)日：2013-07-23
申请号：US13029041
申请日：2011-02-16
申请人： Renius Owen , Charles M. Strom
发明人： Renius Owen , Charles M. Strom
IPC分类号： C12Q1/68 , C07H21/02 , C07H21/04
CPC分类号： C12Q1/6809 , C12Q2521/531 , C12Q2563/107 , C12Q2565/501
摘要： Provided are methods of determining differences between nucleic acids in a test sample and a reference sample. In certain embodiments the methods are used for detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, provided are advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples.
摘要翻译：提供了确定测试样品中的核酸与参考样品之间的差异的方法。在某些实施方案中，所述方法用于检测和绘制与各种疾病相关的染色体或遗传异常或各种疾病的倾向，或用于检测大规模拷贝数变体的现象。特别地，提供了执行基于阵列的比较杂交的先进方法，其允许样品之间的再现性和通过对测试样品和参照样品核酸使用相同的可检测标记来提高灵敏度。本发明方法可用于检测或诊断特定的疾病状况如癌症，并且基于染色体或遗传异常和基因表达水平的检测来检测癌症易感性。本发明的方法也可用于遗传性遗传疾病或其易感性的检测或诊断，特别是在产前样品中。

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