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1. 发明专利

JP2000074883A System for forming atomized sample specimen-containing solution to be introduced into sample analyzing system and sample introducing system 审中-公开
标题翻译：用于形成样品样品样品解决方案的系统将被引入样品分析系统和样品介绍系统
公开(公告)号：JP2000074883A
公开(公告)日：2000-03-14
申请号：JP23395799
申请日：1999-08-20
申请人： Transgenomic Inc , Yokogawa Analytical Systems Inc , トランスジェノミック・インコーポレイテッド(Transgenomic Incorporated) , 横河アナリティカルシステムズ株式会社
发明人： MORIOKA AKIHIRO , TAKAHASHI JUNICHI , AMANO YOSHITOSHI , STEIN WILLIAM J , FRY ROBERT C
IPC分类号： H01J49/04 , G01N1/28 , G01N21/71 , G01N27/62
CPC分类号： G01N21/714
摘要： PROBLEM TO BE SOLVED: To prevent the clogging/breakage of a sample feed-out tube by providing a plurality of concentric protecting tube-like layers surrounding the circumference of the sample feed-out tube, and absorbing the generated force.
SOLUTION: Three concentric layers 41a, 41b, 41d are arranged around a sample feed-out tube part 41c. It is preferred to use a thermally contractible material, for example, Teflon for the layers 41a, 41b, and a strength providing material, for example, metal or ceramics for the layer 41d. According to such a structure, the sample feed-out tube 41c is resistant to the fixation in a through- hole part by a ferrule 53 without breakage. In the position where a sample feed-out tube 41 is fixed within the through-hole of the combination of an atomizer means and a connecting means, generally, at least two circumferential concentric protecting tube layers are provided around the sample feed-out tube 41, whereby at least two protecting layers work to prevent the clogging and/or breakage of the sample feed-out tube.
COPYRIGHT: (C)2000,JPO
摘要翻译：要解决的问题：通过设置围绕样品送出管的周围的多个同心保护管状层，并吸收产生的力来防止样品送出管的堵塞/破裂。解决方案：三个同心层41a，41b，41d围绕样品送出管部分41c布置。优选使用热收缩材料，例如Teflon用于层41a，41b，以及强度提供材料，例如用于层41d的金属或陶瓷。根据这样的结构，试样送出管41c抵抗通过套圈53在通孔部中的固定而没有破损。在样品送出管41固定在雾化器装置和连接装置的组合的通孔内的位置，通常在样品送出管41周围设置至少两个圆周同心保护管层由此至少两个保护层起作用以防止样品送出管的堵塞和/或断裂。

2. 发明申请

US20130309724A1 STEP-UP METHOD FOR COLD-PCR ENRICHMENT 有权
标题翻译：用于冷PCR扩增的步骤方法
公开(公告)号：US20130309724A1
公开(公告)日：2013-11-21
申请号：US13834167
申请日：2013-03-15
申请人： TRANSGENOMIC, INC.
发明人： Reyes Candau-Cachon
IPC分类号： C12P19/34
CPC分类号： C12P19/34 , C12Q1/6848 , C12Q1/6858 , C12Q1/686 , C12Q2527/107 , C12Q2537/113 , C12Q2537/159 , C12Q2537/163
摘要： Methods of using polymerase chain reactions to enrich a target sequence in a sample containing reference sequences and target sequences having high homology and amplifiable by the same primer pair are provided herein. In particular the methods provide a robust means to improve the fold enrichment of the target sequence and minimize reaction-to-reaction, well-to-well and run-to-run variations in the enrichment methods.
摘要翻译：本文提供了使用聚合酶链反应来富集含有参考序列的样品中的靶序列和具有高同源性并可由相同引物对扩增的靶序列的方法。特别地，这些方法提供了强化手段，以改善靶序列的倍数富集，并使富集方法中的反应 - 反应，井对井和运行 - 运行变化最小化。

3. 发明申请

US20040191769A1 Methods, compositions, and kits for mutation detection in mitochondrial DNA 审中-公开
标题翻译：用于线粒体DNA突变检测的方法，组合物和试剂盒
公开(公告)号：US20040191769A1
公开(公告)日：2004-09-30
申请号：US10202162
申请日：2002-07-24
申请人： Transgenomic, Inc.
发明人： Michael A. Marino , Patricia McAndrew
IPC分类号： C12Q001/68 , C12P019/34
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： Methods, compositions, and kits for detecting mutations in the entire human mitochondrial genome. A preferred method includes amplifying mtDNA from a biological sample by polymerase chain reaction of total DNA using a plurality of pre-selected primer pairs to generate overlapping amplicons; cleaving the amplicons using restriction enzymes to produce fragments suitable for analysis by denaturing high performance liquid chromatography (DHPLC); denaturing and re-annealing the amplicons; and fragment analysis by DHPLC to detect the presence or absence of heteroduplex molecules.
摘要翻译：用于检测整个人线粒体基因组中的突变的方法，组合物和试剂盒。优选的方法包括使用多个预先选择的引物对通过总DNA的聚合酶链反应从生物样品中扩增mtDNA以产生重叠的扩增子; 使用限制酶切割扩增子以产生适于通过变性高效液相色谱（DHPLC）分析的片段; 变性和再退火扩增子; 并通过DHPLC进行片段分析，以检测异源双链分子的存在或不存在。

4. 发明申请

US20150307941A1 MUTATIONS ASSOCIATED WITH LONG QT SYNDROME 审中-公开
标题翻译：与长QT综合症相关的突变
公开(公告)号：US20150307941A1
公开(公告)日：2015-10-29
申请号：US14152557
申请日：2014-01-10
申请人： Transgenomic, Inc.
发明人： Benjamin Salisbury , Carole L. Harris-Kerr
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： The invention is based, at least in part, on the observation that the presence of particular biomarkers, e.g., particular mutations in any of the KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes as identified in Tables 1-5 (and, in particular, those identified with an asterisk), is associated with Long QT Syndrome (LQTS).
摘要翻译：本发明至少部分地基于如下观察：特定生物标志物的存在，例如在表1-5中确定的任何KCNQ1，KCNH2，SCN5A，KCNE1和KCNE2基因中的特定突变（特别是，标有星号的）与长QT综合征（LQTS）有关。

5. 发明申请

US20030225261A1 Methods and compositions for mutation analysis of polynucleotides by liquid chromatography 失效
标题翻译：通过液相色谱法对多核苷酸进行突变分析的方法和组合物
公开(公告)号：US20030225261A1
公开(公告)日：2003-12-04
申请号：US10266906
申请日：2002-10-07
申请人： Transgenomic, Inc.
发明人： Paul D. Taylor , Liem T. Nguyen
IPC分类号： C12Q001/68 , C07H021/04
CPC分类号： G01N30/34 , B01D15/161 , B01D15/20 , B01D15/325 , B01D15/366 , B01D15/426 , C12Q1/6827 , G01N30/02 , C12Q2565/137 , C12Q2527/125 , G01N2030/3007 , C12Q2545/113 , G01N30/30
摘要： Methods, compositions, and kits for separating heteroduplex and homoduplex DNA molecules in a test mixture by temperature-compression denaturing high performance liquid chromatography (tcDHPLC). The method includes use of nitrogen-containing additives in the mobile phase that allow detection of diverse heteroduplex molecules to be performed at the same pre-selected temperature. An example of a preferred additive is betaine. Standard mixtures of DNA fragments, such as mutation standards containing known heteroduplex and homoduplex molecules, can be used to select the concentration of additive and temperature. Compositions and kits including the mobile phase, mutation standards, PCR primers, separation media, and DNA polymerase are also provided.
摘要翻译：通过温度 - 压缩变性高效液相色谱（tcDHPLC）在测试混合物中分离异源双链体和同源双链DNA分子的方法，组合物和试剂盒。该方法包括在流动相中使用含氮添加剂，其允许在相同的预选温度下检测多种异源双链分子。优选添加剂的实例是甜菜碱。可以使用DNA片段的标准混合物，例如含有已知的异源二聚体和同源双链体分子的突变标准物来选择添加剂和温度的浓度。还提供了包括流动相，突变标准品，PCR引物，分离介质和DNA聚合酶的组合物和试剂盒。

6. 发明申请

US20030057154A1 Process for performing polynucleotide separations 审中-公开
公开(公告)号：US20030057154A1
公开(公告)日：2003-03-27
申请号：US10282855
申请日：2002-10-28
申请人： Transgenomic, Inc.
发明人： Douglas T. Gjerde , Robert M. Haefele , David Togami
IPC分类号： B01D015/08
CPC分类号： C12N15/101 , B01D15/12 , B01D15/366 , B01D15/38 , B01J45/00 , G01N30/14 , G01N2030/528
摘要： The invention recognizes the deleterious effects of trace, and even undetectable amounts of multivalent cations on the separation of mixtures of polynucleotides, especially double stranded polynucleotides, and provides an improved method for separating such mixtures on wide pore, non-polar separation media by eliminating multivalent cations from the all aspects of the separation process. This is accomplished by using components in the separation process which are materials which do not release metal cations. In addition, the use of cation capture resins and other methods to remove residual traces of multivalent cations from eluting solvents, sample solutions, separation media, and system components is described. It is also important to remove any traces or organic contaminants from solvents solutions and system parts. Taking similar steps to remove residual traces of multivalent cations and organic impurities from the separation process, the invention may also be used in a batch process to separate mixtures of polynucleotide fragments.

7. 发明申请

US20030211457A1 Methods and kits for testing mutagenicity 审中-公开
标题翻译：用于测试致突变性的方法和试剂盒
公开(公告)号：US20030211457A1
公开(公告)日：2003-11-13
申请号：US10273601
申请日：2002-10-17
申请人： Transgenomic, Inc.
发明人： Luman Wing , Michael Saghbini
IPC分类号： C12Q001/00 , C12Q001/68 , C12N001/20
CPC分类号： C12Q1/025
摘要： In one aspect, methods and kits for determining the mutagenic potential of a test substance. The method includes exposing a tester strain (such as Salmonella typhimurium) to the substance, wherein the tester strain includes a gene (such as the histidine gene) having a preexisting mutation conferring auxotrophy, and the mutation is located at a pre-determined position in the gene, growing the tester strain in growth media lacking histidine, and detecting the presence of a back-mutation at the position by analysis of the nucleic acid. The tester strain can be selected from TA98, TA100, TA102 TA1535, TA1537, TA1538, and TA97. The test substance can be any of a wide variety of compounds such as petroleum extracts, pesticides, cosmetics, adhesives, herbicides, hair dyes, and pharmaceuticals. The detecting step can include one or more conventional mutation detection methods. Also provided are kits for conducting the method. The kits can include one or more tester strains, PCR primers, positive control compounds, and DNA polymerase.
摘要翻译：一方面，用于测定测试物质的诱变潜力的方法和试剂盒。所述方法包括将测试菌株（例如鼠伤寒沙门氏菌）暴露于物质，其中测试菌株包含具有赋予营养缺陷型的预先存在的突变的基因（例如组氨酸基因），并且突变位于预定位置该基因在缺乏组氨酸的生长培养基中生长测试菌株，并通过核酸分析来检测在该位置存在的反向突变。测试仪可以选自TA98，TA100，TA102 TA1535，TA1537，TA1538和TA97。测试物质可以是各种各样的化合物，例如石油提取物，农药，化妆品，粘合剂，除草剂，染发剂和药物。检测步骤可以包括一种或多种常规突变检测方法。还提供了用于进行该方法的试剂盒。试剂盒可以包括一种或多种测试株，PCR引物，阳性对照化合物和DNA聚合酶。

8. 发明申请

US20030165941A1 System and method for automated matched ion polynucleotide chromatography 失效
标题翻译：自动匹配离子多核苷酸色谱的系统和方法
公开(公告)号：US20030165941A1
公开(公告)日：2003-09-04
申请号：US10308576
申请日：2002-12-02
申请人： Transgenomic, Inc.
发明人： Douglas T. Gjerde , Paul D. Taylor , Christopher P. Hanna
IPC分类号： C12Q001/68 , G06F019/00 , G01N033/48 , G01N033/50
CPC分类号： C12Q1/6827 , B01D15/166 , B01D15/366 , C12N15/101 , C12Q1/6869 , G01N30/30 , G01N30/96 , G01N2030/8827 , C12Q2565/137 , C12Q2527/107
摘要： In an extensive Matched Ion Polynucleotide Chromatography (MIPC) system and method, and the computer programs or software associated therewith, the system provides automated options for sample selection, mobile phase gradient selection and control, column and mobile phase temperature control, and fragment collection for a wide variety of MIPC separation processes. MIPC separation processes can be applied to effect size-based separation of DNA fragments, mutation detection, DNA fragment purification, PCR process monitoring and other novel processes. This invention is directed to the system and software which automates many of these procedures, facilitating use of the system to achieve complex separation methods. In one embodiment of the invention, a user specifies a size range of double stranded DNA fragment(s) in a mixture, the software calculates a solvent gradient to elute the fragment(s), and the system performs the chromatographic separation using the calculated gradient. In an embodiment useful in DNA mutation detection, a user specifies the base sequence of a wild type DNA molecule, the software calculates a temperature for partially denaturing heteroduplex and homoduplex molecules of the DNA in a mixture, the software calculates a solvent gradient to elute the fragments, and the system performs the chromatographic separation using the calculated gradient and temperature.
摘要翻译：在广泛的匹配离子多核苷酸色谱（MIPC）系统和方法以及与其相关的计算机程序或软件中，系统提供用于样品选择，流动相梯度选择和控制，色谱柱和流动相温度控制以及片段收集的自动选择各种MIPC分离过程。可以应用MIPC分离过程来实现基于大小的DNA片段分离，突变检测，DNA片段纯化，PCR过程监控等新方法。本发明涉及自动化许多这些程序的系统和软件，便于使用该系统来实现复杂的分离方法。在本发明的一个实施方案中，用户指定混合物中双链DNA片段的大小范围，软件计算溶剂梯度以洗脱片段，并且系统使用计算的梯度进行色谱分离。在DNA突变检测中有用的实施方案中，用户指定野生型DNA分子的碱基序列，软件计算混合物中DNA的部分变性异源双链体和同源双链体分子的温度，软件计算溶剂梯度洗脱片段，系统使用计算的梯度和温度进行色谱分离。

9. 发明申请

US20030102260A1 Non-polar media for polynucloetide separations 审中-公开
标题翻译：非极性培养基用于多核苷酸分离
公开(公告)号：US20030102260A1
公开(公告)日：2003-06-05
申请号：US10293625
申请日：2002-11-12
申请人： Transgenomic, Inc.
发明人： Douglas T. Gjerde , Paul D. Taylor
IPC分类号： B01D015/08
CPC分类号： B01D15/366 , B01J20/28004 , B01J20/28042 , B01J20/287 , B01J20/3204 , B01J20/3225 , B01J20/3227 , B01J20/3268 , C12N15/1006 , C12N15/101
摘要： Nonporous beads having an average diameter of about 0.5-100 microns are suitable for chromatographic separation of mixtures of polynucleotides when the beads comprise a nonporous particle which are coated with a polymer or which have substantially all surface substrate groups endcapped with a non-polar hydrocarbon or substituted hydrocarbon group. The beads provide efficient separation of polynucleotides using Matched Ion Polynucleotide Chromatography.
摘要翻译：平均直径约为0.5-100微米的无孔珠粒适用于多核苷酸混合物的色谱分离，当珠粒包含用聚合物涂覆的无孔颗粒或具有基本上全部被非极性烃封端的表面底物基团时，取代的烃基。珠使用匹配离子多核苷酸色谱法提供多核苷酸的有效分离。

10. 发明申请

WO2009036119A1 METHOD FOR IDENTIFYING THE SEQUENCE OF ONE OR MORE VARIANT NUCLEOTIDES IN A NUCLEIC ACID MOLECULE 审中-公开
标题翻译：用于鉴定核酸分子中一个或多个变体核酸序列的方法
公开(公告)号：WO2009036119A1
公开(公告)日：2009-03-19
申请号：PCT/US2008/075945
申请日：2008-09-11
申请人： TRANSGENOMIC, INC. , TAYLOR, Paul, D. , GERARD, Gary, F. , CANDAU, Reyes
发明人： TAYLOR, Paul, D. , GERARD, Gary, F. , CANDAU, Reyes
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6858 , C12Q1/6869 , C12Q2521/307 , C12Q2535/101 , C12Q2565/101 , C12Q2525/191 , C12Q2521/301
摘要： The invention relates to methods for identifying the sequence of one or more variant nucleotides in a nucleic acid molecule. The method involves cleaving a double- stranded nucleic acid molecule containing a mismatch with a mismatch-specific endonuclease which cleaves on the 3' side of the mismatch, and preserving the integrity of the variant nucleotide by ligating a double -stranded linker with a 3 '-overhang to said variant nucleotide. Because the variant nucleotide is immediately adjacent to the linker, PCR and/or sequence-by-synthesis analysis can be readily carried out.
摘要翻译：本发明涉及鉴定核酸分子中一个或多个变体核苷酸序列的方法。该方法包括切割含有错配特异性内切核酸酶的错配的双链核酸分子，所述失配特异性内切核酸酶在错配的3'侧切割，并通过连接3'端的双链接头来保持变体核苷酸的完整性，跨过所述变体核苷酸。因为变体核苷酸与接头直接相邻，所以可以容易地进行PCR和/或逐个序列分析。

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