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1. 发明申请

WO2009092035A3 METHODS AND COMPOSITIONS FOR THE ANALYSIS OF BIOLOGICAL MOLECULES 审中-公开
标题翻译：生物分子分析的方法和组合
公开(公告)号：WO2009092035A3
公开(公告)日：2009-10-15
申请号：PCT/US2009031325
申请日：2009-01-16
申请人： SEQUENOM INC , CANTOR CHARLES R
发明人： CANTOR CHARLES R
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6818 , C12Q1/6816 , C12Q1/6869 , C12Q2521/501 , C12Q2525/161 , C12Q2563/185
摘要： Provided herein are compositions and methods for analysis of nucleic acids, including, methods and compositions for genotyping, haplotyping, sequencing and performing other genetic and epigenetic analyses on nucleic acids, for example. In some embodiments, methods and compositions suitable for whole-genome sequencing on single molecules of nucleic acid are provided. In some embodiments, analysis of single molecules of nucleic acid are performed in conjunction with nanopores and/or nanopore devices.
摘要翻译：本文提供了用于分析核酸的组合物和方法，包括用于例如基因分型，单倍型，测序和对核酸进行其它遗传和表观遗传学分析的方法和组合物。在一些实施方案中，提供适用于单分子核酸上的全基因组测序的方法和组合物。在一些实施方案中，结合纳米孔和/或纳米孔装置进行单分子核酸的分析。

2. 发明申请

WO9820020A3 HIGH DENSITY IMMOBILIZATION OF NUCLEIC ACIDS 审中-公开
标题翻译：核酸的高密度固定
公开(公告)号：WO9820020A3
公开(公告)日：1998-10-22
申请号：PCT/US9720195
申请日：1997-11-06
申请人： SEQUENOM INC , DONNELL MARYANNE J O , CANTOR CHARLES R , LITTLE DANIEL P , KOSTER HUBERT
发明人： O'DONNELL MARYANNE J , CANTOR CHARLES R , LITTLE DANIEL P , KOSTER HUBERT
IPC分类号： G01N27/62 , B01J19/00 , B01L3/02 , C07B61/00 , C07F9/24 , C07H21/00 , C12M1/00 , C12N15/09 , C12Q1/68 , C40B40/06 , C40B40/10 , C40B60/14 , G01N33/53 , G01N33/566 , G01N35/00 , G01N35/10 , G01N37/00
CPC分类号： B01L3/0244 , B01J19/0046 , B01J2219/00315 , B01J2219/00317 , B01J2219/00387 , B01J2219/00468 , B01J2219/00497 , B01J2219/005 , B01J2219/00504 , B01J2219/00511 , B01J2219/0052 , B01J2219/00527 , B01J2219/00585 , B01J2219/00596 , B01J2219/00605 , B01J2219/0061 , B01J2219/00612 , B01J2219/00621 , B01J2219/00626 , B01J2219/00637 , B01J2219/00648 , B01J2219/00659 , B01J2219/0072 , B01J2219/00722 , B01J2219/00725 , B01L3/0262 , B01L3/0268 , B01L2200/025 , B01L2300/0838 , B01L2400/0439 , B01L2400/0487 , C07B2200/11 , C07F9/2408 , C07F9/2429 , C07H21/00 , C12Q1/6816 , C12Q1/6827 , C12Q1/6834 , C12Q1/6837 , C12Q1/6858 , C12Q1/6872 , C12Q1/6883 , C12Q1/6886 , C40B40/06 , C40B40/10 , C40B60/14 , G01N35/1067 , G01N35/1074 , G01N2035/00237 , G01N2035/1037 , G01N2035/1069 , C12Q2525/197 , C12Q2523/10 , C12Q2531/113 , C12Q2565/537 , C12Q2565/627 , C12Q2565/507 , C12Q2565/518 , C12Q2535/101
摘要： The invention provides a dispensing apparatus for dispensing nanovolumes of fluid in chemical or biological procedures onto the surface of a substrate, comprising: a housing having a plurality of sides and a bottom portion having formed therein a plurality of apertures, said sides and bottom portion of said housing defining an interior volume, one or more fluid transmitting vesicles, mounted within said apertures, having a nanovolume sized fluid holding chamber for holding nanovolumes of fluid, said fluid holding chamber being disposed in fluid communication with said interior volume of said housing, and dispensing means in communication with said interior volume of said housing for selectively dispensing nanovolumes of fluid from said nanovolume sized fluid transmitting vesicles when the fluid is loaded with said fluid holding chambers of said vesicles, whereby said dispensing means dispenses nanovolumes of the fluid onto the surface of the substrate when the apparatus is disposed over and in registration with the substrate.

3. 发明申请

WO2012088348A3 FETAL GENETIC VARIATION DETECTION 审中-公开
标题翻译：胎儿遗传学变异检测
公开(公告)号：WO2012088348A3
公开(公告)日：2012-12-06
申请号：PCT/US2011066639
申请日：2011-12-21
申请人： SEQUENOM INC , HIXSON HARRY , CANTOR CHARLES R
发明人： HIXSON HARRY , CANTOR CHARLES R
IPC分类号： C12Q1/68 , G06F19/22 , G06F19/26
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6827 , C12Q2537/16 , C12Q2537/165
摘要： Provided herein are fetal diagnostic methods, kits and computational products useful for non- invasively detecting genetic variations for which maternal nucleic acid sequences are utilized as a reference.
摘要翻译：本文提供了胎儿诊断方法，试剂盒和计算产品，其可用于非侵入性检测将母本核酸序列用作参照的遗传变异。

4. 发明申请

WO2007051002A3 ACTIVATED SPLIT-POLYPEPTIDES AND METHODS FOR THEIR PRODUCTION AND USE 审中-公开
标题翻译：活性分裂多肽及其生产和使用方法
公开(公告)号：WO2007051002A3
公开(公告)日：2007-08-09
申请号：PCT/US2006042299
申请日：2006-10-27
申请人： UNIV BOSTON , BROUDE NATALIA , CANTOR CHARLES R , DEMIDOV VADIM V
发明人： BROUDE NATALIA , CANTOR CHARLES R , DEMIDOV VADIM V
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883
摘要： The present invention relates to a method to produce activated split-polypeptide fragments that on reconstitution immediately forms an active protein. The method relate to real-time protein complementation. Also encompassed in the invention is a method to split and produce split-fluorescent proteins in an active state which produce a fluorescent signal immediately on reconstitution. The present application also provides methods to detect nucleic acids; non-nucleic acid analytes and nucleic acid hybridization in real-time using the novel activated split-polypeptide fragments of the invention.
摘要翻译：本发明涉及产生活化的分裂多肽片段的方法，其在重建时立即形成活性蛋白质。该方法涉及实时蛋白质互补。本发明还包括分裂并产生处于活性状态的分裂荧光蛋白的方法，其立即在重建时产生荧光信号。本申请还提供了检测核酸的方法; 非核酸分析物和实时核酸杂交使用本发明的新的活化的分裂多肽片段。

5. 发明申请

WO2005035725A3 METHODS FOR PRENATAL DIAGNOSIS OF CHROMOSOMAL ABNORMALITIES 审中-公开
标题翻译：用于临床诊断染色体异常的方法
公开(公告)号：WO2005035725A3
公开(公告)日：2006-06-29
申请号：PCT/US2004033175
申请日：2004-10-08
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6876 , C12Q2600/154 , C12Q2600/156 , C12Q2600/166 , C12Q2521/331
摘要： Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.
摘要翻译：染色体异常负责大量的出生缺陷，包括精神发育迟滞。本发明涉及基于母体血液样品分析的非侵入性和快速，产前诊断染色体异常的方法。本发明利用母体和胎儿之间的DNA差异，例如甲基化状态的差异，作为富集母体血浆样品中胎儿DNA的手段。本文描述的方法可用于检测染色体DNA缺失和重复。在优选的实施方案中，所述方法用于诊断染色体非整倍性和相关疾病，例如唐氏和特纳氏综合征。

6. 发明申请

WO2004046321A3 CIS/TRANS RIBOREGULATORS 审中-公开
标题翻译： CIS / TRANS RIBOREGULATORS
公开(公告)号：WO2004046321A3
公开(公告)日：2005-02-03
申请号：PCT/US0336506
申请日：2003-11-14
申请人： UNIV BOSTON , COLLINS JAMES J , ISAACS FARREN J , DWYER DANIEL J , CANTOR CHARLES R
发明人： COLLINS JAMES J , ISAACS FARREN J , DWYER DANIEL J , CANTOR CHARLES R
IPC分类号： C12N15/11 , C12N15/67 , C12Q1/68 , C07H21/04 , A01K67/00
CPC分类号： C12N15/67 , C12N15/11 , C12N2310/53 , C12Q1/6897
摘要： The present invention provides nucleic acid molecules, DNA constructs, plasmids, and methods for post-transcriptional regulation of gene expression using RNA molecules to both repress and activate translation of an open reading frame. Repression of gene expression is achieved through the presence of a regulatory nucleic acid element (the cis-repressive RNA or crRNA) within the 5' untranslated region (5' UTR) of an mRNA molecule. The nucleic acid element forms a hairpin (stem/loop) structure through complementary base pairing. The hairpin blocks access to the mRNA transcript by the ribosome, thereby preventing translation. In particular, in embodiments of the invention designed to operate in prokaryotic cells, the stem of the hairpin secondary structure sequesters the ribosome binding site (RBS). In embodiments of the invention designed to operate in eukaryotic cells, the stem of the hairpin is positioned upstream of the start codon, anywhere within the 5' UTR of an mRNA. A small RNA (trans-activating RNA, or taRNA), expressed in trans, interacts with the crRNA and alters the hairpin structure. This alteration allows the ribosome to gain access to the region of the transcript upstream of the start codon, thereby activating transcription from its previously repressed state.
摘要翻译：本发明提供核酸分子，DNA构建体，质粒和用于转录后调节基因表达的方法，其使用RNA分子抑制和激活开放阅读框的翻译。通过在mRNA分子的5'非翻译区（5'UTR）内存在调节性核酸元件（顺式抑制性RNA或crRNA）来实现基因表达的抑制。核酸元件通过互补碱基配对形成发夹（茎/环）结构。发夹阻止核糖体进入mRNA转录物，从而阻止翻译。特别地，在设计用于在原核细胞中操作的本发明的实施方案中，发夹二级结构的茎螯合核糖体结合位点（RBS）。在设计用于在真核细胞中操作的本发明的实施方案中，发夹的茎位于起始密码子的上游，位于mRNA的5'UTR内的任何位置。以反式表达的小RNA（反式激活RNA或taRNA）与crRNA相互作用并改变发夹结构。这种改变允许核糖体进入起始密码子上游的转录物区域，从而从其先前的抑制状态激活转录。

7. 发明申请

WO2006128010A3 QUANTIFICATION OF NUCLEIC ACIDS AND PROTEINS USING OLIGONUCLEOTIDE MASS TAGS 审中-公开
标题翻译：使用寡核苷酸质量标签对核酸和蛋白质进行定量
公开(公告)号：WO2006128010A3
公开(公告)日：2007-04-12
申请号：PCT/US2006020470
申请日：2006-05-26
申请人： UNIV BOSTON , CANTOR CHARLES R , ZHANG LINGANG , KASIF SIMON
发明人： CANTOR CHARLES R , ZHANG LINGANG , KASIF SIMON
IPC分类号： C12Q1/68 , C12P19/34 , G01N33/53
CPC分类号： C12Q1/6816 , C12Q1/6809 , C12Q2565/627 , C12Q2563/167 , C12Q2545/114
摘要： The invention provides a method for detecting and quantifying the amount of target molecules, such as nucleic acids or proteins in a sample. The target molecules are first recognized and bounded by target-specific probes, generally nucleic acids or proteins that bind specifically to the targets, each of which is labeled with a short single-stranded nucleic acid probe, either DNA or RNA, with distinct molecular weight. This label is called an oligonucleotide mass tag. One or several standard oligonucleotide sequences can be designed with similar sequence but distinct molecular weight to those oligonucleotide mass tags. Then the oligonucleotide mass tags associated with bounded probes and the standard sequences are co-amplified using a pair of common primers. The presence and/or amount of each oligonucleotide mass tag, which corresponds to the amount of corresponding target molecule, is determined by a primer extension reaction and quantification of the primer extension product.
摘要翻译：本发明提供了用于检测和定量样品中靶分子如核酸或蛋白质的量的方法。目标分子首先被目标特异性探针识别并限制，通常是与靶标特异性结合的核酸或蛋白质，其中每个标记有短单链核酸探针，DNA或RNA，具有不同的分子量。该标签称为寡核苷酸质量标签。可以设计一个或几个标准寡核苷酸序列，其具有与那些寡核苷酸质量标签相似的序列但分子量不同。然后使用一对普通引物共同扩增与有界探针和标准序列相关的寡核苷酸质粒标签。通过引物延伸反应和引物延伸产物的定量来确定对应于相应靶分子量的每个寡核苷酸质粒标签的存在和/或量。

8. 发明申请

WO2004065617A3 HAPLOTYPE ANALYSIS 审中-公开
标题翻译： HAPLOTYPE分析
公开(公告)号：WO2004065617A3
公开(公告)日：2006-06-15
申请号：PCT/US2004001329
申请日：2004-01-16
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2600/156 , C12Q2527/137 , C12Q2537/143 , C12Q2565/627
摘要： The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic acid markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.
摘要翻译：本发明提供了高通量单倍型分析的有效方法。可以通过多个平行的单分子稀释物中的单个核酸分子的多重PCR来同时并可靠地测定几种多态性核酸标记，例如SNP，并且随后对来自这些平行的单分子多重PCR反应的结果的统计分析导致可靠的测定的单倍体存在于受试者。核酸标记在染色体上可以彼此有任何距离。此外，分析重叠的DNA标记物的方法可用于将较小的单倍型连接到较大的单元型中。因此，本发明为诊断单倍型和鉴定新型单体型提供了强大的新工具。

9. 发明申请

WO2007050979A2 REAL TIME NUCLEIC ACID DETECTION IN VIVO USING PROTEIN COMPLEMENTATION 审中-公开
标题翻译：使用蛋白质补充的体内实时核酸检测
公开(公告)号：WO2007050979A2
公开(公告)日：2007-05-03
申请号：PCT/US2006042210
申请日：2006-10-27
申请人： UNIV BOSTON , BROUDE NATALIA , CANTOR CHARLES R , BURTON MARIA , DEMIDOV VADIM V
发明人： BROUDE NATALIA , CANTOR CHARLES R , BURTON MARIA , DEMIDOV VADIM V
CPC分类号： C12Q1/6816 , C12Q1/682 , C12Q2563/107 , C12Q2561/107 , C12Q2522/101
摘要： The present invention relates to a method to detect nucleic acid molecules, such as RNA molecules in vivo using real time protein complementation methods. The invention further relates to methods for detecting nucleic acids, for example RNA in real-time in living cells with a high sensitivity, using a novel spl it biomolecular conjugate of the invention.
摘要翻译：本发明涉及使用实时蛋白质互补方法检测体内核酸分子如RNA分子的方法。本发明还涉及使用本发明的新颖的生物分子共轭物来检测核酸的方法，例如以高灵敏度实时检测活细胞中的RNA。

10. 发明申请

WO2006019407A3 METHOD FOR DETECTING AND QUANTIFYING RARE MUTATIONS/POLYMORPHISMS 审中-公开
标题翻译：检测和量化稀有突变/多态性的方法
公开(公告)号：WO2006019407A3
公开(公告)日：2006-07-06
申请号：PCT/US2005005255
申请日：2005-02-18
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6827 , C12Q2600/156 , C12Q2525/186 , C12Q2535/125 , C12Q2565/627 , C12Q2545/101
摘要： The present invention is directed to a method for detecting and quantifying rare mutations in a nucleic acid sample. The nucleic acid molecules under investigation can be either DNA or RNA. The rare mutation can be any type of functional or non-functional nucleic acid change or mutation, such as deletion, insertion, translocation, inversion, one or more base substitution or polymorphism. Therefore, the methods of the present invention are useful in detection of rare mutations in, for example, diagnostic, prognostic and follow-up applications, when the targets are rare known nucleic acid variants mixed in with the wildtype or the more common nucleic acid variant(s).
摘要翻译：本发明涉及用于检测和定量核酸样品中罕见突变的方法。所研究的核酸分子可以是DNA或RNA。该罕见突变可以是任何类型的功能性或非功能性核酸改变或突变，例如缺失，插入，易位，倒位，一个或多个碱基取代或多态性。因此，当靶是稀有已知的核酸变体与野生型或更常见的核酸变体混合时，本发明的方法可用于检测例如诊断，预后和后续应用中的罕见突变（S）。

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