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1. 发明公开

EP3360972A1 SINGLE MOLECULE NUCLEIC ACID SEQUENCE ANALYSIS PROCESSES AND COMPOSITIONS 有权
公开(公告)号：EP3360972A1
公开(公告)日：2018-08-15
申请号：EP18158658.7
申请日：2009-01-15
申请人： Sequenom, Inc.
发明人： CANTOR, Charles R.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6876 , C12Q1/6806 , C12Q1/6837 , C12Q1/6844 , C12Q2565/537 , C12Q2565/519 , C12Q2565/501 , C12Q2531/101 , C12Q2525/161 , C12Q2525/155
摘要： The present invention relates to a method for preparing sample nucleic acid complements, which comprises: a. preparing a mixture comprising sample nucleic acid and a collection of solid supports under conditions in which a single molecule of the sample nucleic acid hybridizes to a nucleic acid molecule on a solid support in the collection, wherein: the nucleic acid molecules on each solid support in the collection comprise a single-stranded solid phase nucleic acid species including a primer sequence, an identifier sequence and a probe sequence orientated 5' - (primer sequence) - (identifier sequence) - (probe sequence) - 3'; the probe sequence of each solid phase nucleic acid species on a solid support in the collection hybridizes to a subsequence of the sample nucleic acid sequence when the probe sequence is complementary to a nucleotide subsequence in the sample nucleic acid sequence; the solid phase nucleic acid species of each solid support in the collection share a common probe sequence or the solid phase nucleic acid species do not share a common probe sequence with other solid phase nucleic acid species on the solid support; the solid phase nucleic acid species on each solid support in the collection share a common identifier sequence; and the sample nucleic acid is single-stranded nucleic acid; and b. contacting the mixture with extension reagents under conditions in which solid phase nucleic acid species hybridized to sample nucleic acid is extended by the reagents; whereby sample nucleic acid complements comprising the shared, unique identifier sequence of a solid support in the collection and comprising subsequences of the sample nucleic acid sequence are prepared.

2. 发明公开

EP3256624A4 MATERIALS AND METHODS TO ANALYZE RNA ISOFORMS IN TRANSCRIPTOMES 无效
公开(公告)号：EP3256624A4
公开(公告)日：2018-07-25
申请号：EP16749926
申请日：2016-02-12
申请人： VACCINE RES INSTITUTE OF SAN DIEGO
发明人： WELSH JOHN
IPC分类号： C40B20/04 , C07H21/00 , C40B30/04 , C40B40/06 , C40B50/06 , C40B70/00
CPC分类号： C12Q1/6874 , C12Q1/6806 , C12Q1/6832 , C12Q2521/101 , C12Q2521/107 , C12Q2525/161 , C12Q2525/173 , C12Q2525/179 , C12Q2525/185 , C12Q2531/101 , C12Q2533/101 , C12Q2535/122 , C12Q2563/159
摘要： The present invention includes, but is not limited to, methods, assays, and compositions for preparing libraries of nucleic acid molecules from biological samples, and for detecting and measuring the abundances of nucleic acid molecules, including RNA and DNA. The methods, assays, and compositions of the present invention provide in whole or in part for the detecting and measuring the abundances of nucleic acid molecules, and particularly but not limited to those nucleic acids that have structures that cannot be determined reliably by routine alignment to a reference sequence or concatenation of smaller sequences by matching homologous ends.

4. 发明公开

EP2217921A2 DNA MICROARRAY BASED IDENTIFICATION AND MAPPING OF BALANCED TRANSLOCATION BREAKPOINTS 审中-公开
标题翻译：识别与破发点映射平衡易位对DNA微阵列基本
公开(公告)号：EP2217921A2
公开(公告)日：2010-08-18
申请号：EP08847203.0
申请日：2008-11-10
申请人： University of Washington
发明人： GREISMAN, Harvey A.
IPC分类号： G01N33/48 , C12P19/34
CPC分类号： C12Q1/6827 , C12Q2565/501 , C12Q2539/101 , C12Q2531/101
摘要： Methods for detecting and mapping chromosomal rearrangements associated with various diseases using comparative genomic hybridization are disclosed. Included are methods to identify translocation partners of known genomic loci and to determine translocation breakpoints. These methods may be used in the prognosis, diagnosis, and determination of predisposition to diseases that involve chromosomal rearrangements.

5. 发明授权

EP1649065B1 METHODS FOR AMPLIFYING POLYMERIC NUCLEIC ACIDS 有权
标题翻译：方法扩增高分子NUCLEIC
公开(公告)号：EP1649065B1
公开(公告)日：2010-03-03
申请号：EP04779936.6
申请日：2004-08-02
申请人： INTEGRATED DNA TECHNOLOGIES, INC.
发明人： BEHLKE, Mark, Aaron , WALDER, Joseph, Alan , MANTHEY, Jeffrey, A.
IPC分类号： C12Q1/68 , C07H21/04
CPC分类号： C12Q1/6848 , C12Q1/6853 , C12Q2549/119 , C12Q2531/101 , C12Q2525/186 , C12Q2525/121 , C12Q2531/113
摘要： The invention provides compositions and methods for amplifying nucleic acid polymer sequences in a high complexity nucleic acid sample. The unique compositions of the invention include a primer set composed of a mixture of two types of primers for DNA synthesis. For extension in one direction, the primers all contain modifications that destroy their ability to serve as templates that can be copied by DNA polymerases. For extension in the opposite direction the set includes at least one primer that can serve as a template and be replicated by DNA polymerases throughout its length. The method can be carried out by mixing the nucleic acid polymer sequence of interest with the set of DNA synthesis primers in an amplification reaction mixture. The reaction mixture is then subjected to temperature cycling analogous to the temperature cycling in PCR reactions. At least one primer in the primer set hybridizes to the nucleic acid polymer. It is preferred that the non-replicable primer hybridizes to the nucleic acid polymer and is extended to produce an extension product that contains sequence from the nucleic acid polymer to which the replicable primer then hybridizes. Of course, if the nucleic acid polymer is double stranded, both the replicable and nonreplicable primers will hybridize and be extended by DNA polymerase.

6. 发明公开

EP2128271A1 Method for discriminating between nucleotide sequences of nucleic acids 有权
标题翻译： Verfahren zur Diskriminierung zwischen Nukleotidsequenzen vonNukleinsäuren
公开(公告)号：EP2128271A1
公开(公告)日：2009-12-02
申请号：EP09161227.5
申请日：2009-05-27
申请人： Fujifilm Corporation
发明人： Miyoshi, Hayato , Iwaki, Yoshihide , Mori, Toshihiro
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6844 , C12Q1/6858 , C12Q2531/119 , C12Q2531/101
摘要： It is an object of the present invention to provide a method for discriminating between nucleic acid sequences with high accuracy by utilizing a method for specifically amplifying nucleic acid sequences under isothermal conditions. The present invention provides a method for discriminating between the nucleotide sequence of a first nucleic acid and the nucleotide sequence of a second nucleic acid by a nucleic acid amplification method that is performed under substantially isothermal conditions, wherein (1) at least one type of oligonucleotide (hereinafter "primer") substantially complementary to the first nucleic acid, and (2) at least one type of oligonucleic acid (hereinafter "mask oligo") that is designed such that it hybridizes to the nucleotide sequence portions of the first nucleic acid and the second nucleic acid to be discriminated, such that it is more complementary to the second nucleic acid than to the first nucleic acid, and such that it does not become an origin of an elongation reaction with polymerase, are used, the method being characterized in that a portion of the primer and a portion of the mask oligo hybridize to the same regions on the first nucleic acid and the second nucleic acid.
摘要翻译：本发明的目的是提供一种通过利用在等温条件下特异性扩增核酸序列的方法来高精度地区分核酸序列的方法。本发明提供了通过在基本上等温条件下进行的核酸扩增方法来区分第一核酸的核苷酸序列和第二核酸的核苷酸序列的方法，其中（1）至少一种类型的寡核苷酸（以下称为“引物”），和（2）至少一种类型的低聚核酸（以下称为“掩模寡核苷酸”），其被设计为与第一核酸的核苷酸序列部分杂交，要被鉴别的第二核酸，使得其比第一核酸与第二核酸更互补，并且使其不成为与聚合酶的延伸反应的起点，所述方法的特征在于引物的一部分和掩模寡核苷酸的一部分与第一核酸和第二核酸上的相同区域杂交。

7. 发明公开

EP1776482A2 LOG-LINEAR AMPLIFICATION 审中-公开
标题翻译：对数线性增益
公开(公告)号：EP1776482A2
公开(公告)日：2007-04-25
申请号：EP05857487.2
申请日：2005-06-30
申请人： Applera Corporation
发明人： LAO, Kai, Qin , KAO, H., Pin , JONES, Robert
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6851 , C12Q2545/10 , C12Q2531/101
摘要： The present disclosure provides methods and composition to detect or quantitate one or more target sequences in a reaction that couples a linear amplification reaction to an exponential amplification reaction.

8. 发明授权

EP1061135B1 Methods and oligonucleotides for detecting nucleic acid sequence variations 有权
标题翻译：一种用于检测核酸序列中的变异的方法和寡核苷酸
公开(公告)号：EP1061135B1
公开(公告)日：2006-08-09
申请号：EP00108366.6
申请日：2000-04-17
申请人： Becton Dickinson and Company
发明人： Wright, David J. , Milla, Maria A. , Nadeau, James G. , Walker, G. Terrance
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q2565/1025 , C12Q2535/125 , C12Q2531/119 , C12Q2531/101

9. 发明授权

EP1231281B1 METHOD OF DETECTING VARIATION OR POLYMORPHISM 有权
标题翻译：检测方法的变化或多态性
公开(公告)号：EP1231281B1
公开(公告)日：2006-02-01
申请号：EP00971828.9
申请日：2000-11-07
申请人： EIKEN KAGAKU KABUSHIKI KAISHA
发明人： KANDA, Hidetoshi, Nasu Kojo, Eiken KK , NOTOMI, Tsugunori, Nasu Kojo, Eiken KK , NAGAMINE, Kentaro, Nasu Kojo, Eiken KK , YONEKAWA, Toshihiro, Nasu Kojo, Eiken KK
IPC分类号： C12Q1/68 , C12N15/00
CPC分类号： C12Q1/6844 , C12Q1/6827 , C12Q1/6858 , Y02A50/58 , C12Q2537/1373 , C12Q2531/101 , C12Q2531/119 , C12Q2525/161
摘要： The method of the present invention is based on a method wherein a nucleic acid is synthesized utilizing the hybridized 3'-end, which is synthesized by complementary strand synthesis, on a specific region of a target nucleotide sequence existing as the nucleotide sequence of the same strand as the origin for the next round of complementary strand synthesis. The hybridization to a specific region, which region is searched for mutations and polymorphisms, is repeatedly carried out according to the present invention. Thus, mutations and polymorphisms in a target nucleotide sequence are exactly copied to the reaction products.

10. 发明公开

EP1585967A2 METHODS FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS 审中-公开
标题翻译：检测方法的NUCLEIC序列变异
公开(公告)号：EP1585967A2
公开(公告)日：2005-10-19
申请号：EP03771988.7
申请日：2003-07-25
申请人： Becton, Dickinson and Company
发明人： WANG, Sha-Sha , THORNTON, Keith , NADEAU, James, G. , HELLYER, Tobin, J.
IPC分类号： G01N1/00
CPC分类号： C12Q1/6827 , A01H5/02 , A01H6/38 , C12Q1/6818 , C12Q1/6858 , C12Q2525/161 , C12Q2525/185 , C12Q2531/119 , C12Q2565/1015 , C12Q2561/113 , C12Q2565/1025 , C12Q2535/125 , C12Q2531/101
摘要： The invention employs an unlabeled signal primer comprising a 5' adapter sequence for detection of variations in nucleic acid target sequences. The detection system further comprises a reporter probe, the 3' end of which hybridizes to the complement of the 5' adapter sequence of the signal primer to produce a 5' overhang. Polymerase is used to fill in the overhang and synthesize the complement of the 5' overhang of the reporter probe. Synthesis of the reporter probe complement is detected, either directly or indirectly, as an indication of the presence of the target.

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