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公开(公告)号：US5306616A
公开(公告)日：1994-04-26
申请号：US711615
申请日：1991-06-06
CPC分类号： C07K14/47 , C12Q1/683 , C12Q1/6858 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： A method for detecting Charcot-Marie-Tooth (CMT) disease by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMT disease. The method employs extracting DNA from a sample to be tested, and performing Southern analyses with probes which detect the CMT duplication or by amplifying the extracted DNA and identifying the presence or absence of a DNA duplication in the amplified extension products. Also disclosed are sequences contained within the duplication used as probes for Southern analysis as well as primer sequences located within the CMT duplicated region for the PCR analysis.
摘要翻译： 通过测量与CMT疾病相关的基因位点DNA复制的存在或不存在来检测Charcot-Marie-Tooth（CMT）疾病的方法。 该方法采用从待测试样品中提取DNA，并用探测CMT复制的探针进行Southern分析，或通过扩增提取的DNA并鉴定扩增扩增产物中DNA复制的存在或不存在。 还公开了包含在用作Southern分析的探针的复制内的序列以及位于用于PCR分析的CMT重复区域内的引物序列。
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12.发明授权Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter 有权使用核酸序列进行ATP结合盒转运蛋白的基因治疗方法公开(公告)号：US08129353B2
公开(公告)日：2012-03-06
申请号：US11636909
申请日：2006-12-11
申请人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
发明人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
CPC分类号： C07K14/705 , A01K2217/05
摘要： The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
摘要翻译： 本发明提供ATP结合盒转运蛋白的核酸和氨基酸序列及其与黄斑变性相关的突变序列。 检测修饰ATP结合盒转运蛋白的试剂的方法，其包括将纯化的ATP结合盒转运蛋白与至少一种疑似修饰ATP结合盒转运蛋白的试剂组合，观察与ATP结合盒转运蛋白相关的至少一个特征的变化。 检测黄斑变性的方法也由本发明体现。
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13.发明申请METHODS OF GENE THERAPY USING NUCLEIC ACID SEQUENCES FOR ATP-BINDING CASSETTE TRANSPORTER 审中-公开使用核酸序列进行ATP结合CASSETTE TRANSPORTER的基因治疗方法公开(公告)号：US20120040456A1
公开(公告)日：2012-02-16
申请号：US13151375
申请日：2011-06-02
申请人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
发明人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
CPC分类号： C07K14/705 , A01K2217/05
摘要： The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
摘要翻译： 本发明提供ATP结合盒转运蛋白的核酸和氨基酸序列及其与黄斑变性相关的突变序列。 检测修饰ATP结合盒转运蛋白的试剂的方法，其包括将纯化的ATP结合盒转运蛋白与至少一种疑似修饰ATP结合盒转运蛋白的试剂组合，观察与ATP结合盒转运蛋白相关的至少一个特征的变化。 检测黄斑变性的方法也由本发明体现。
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14.发明申请Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter 有权使用核酸序列进行ATP结合盒转运蛋白的基因治疗方法公开(公告)号：US20090029930A1
公开(公告)日：2009-01-29
申请号：US11636909
申请日：2006-12-11
申请人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
发明人： Rando Allikmets , Kent L. Anderson , Michael Dean , Mark Leppert , Richard A. Lewis , Yixin Li , James R. Lupski , Jeremy Nathans , Amir Rattner , Noah F. Shroyer , Nanda Singh , Philip Smallwood , Hui Sun
IPC分类号： A61K31/711
CPC分类号： C07K14/705 , A01K2217/05
摘要： The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
摘要翻译： 本发明提供ATP结合盒转运蛋白的核酸和氨基酸序列及其与黄斑变性相关的突变序列。 检测修饰ATP结合盒转运蛋白的试剂的方法，其包括将纯化的ATP结合盒转运蛋白与至少一种疑似修饰ATP结合盒转运蛋白的试剂组合，观察与ATP结合盒转运蛋白相关的至少一个特征的变化。 检测黄斑变性的方法也由本发明体现。
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15.发明授权Methods of screening for agents that delay a cell cycle and compositions comprising era and an analogue of wild-type era 失效筛选延迟细胞周期的试剂的方法和包含时代和野生型时代的类似物的组合物
公开(公告)号：US6132954A
公开(公告)日：2000-10-17
申请号：US915498
申请日：1997-08-20
摘要： The present invention provides for methods of screening for agents which delay the cell cycle and methods of delaying the cell cycle. Analogues of Era having arginine, histidine, or lysine at amino acid codon 17 are embodied by the present invention. Human and other homologs of bacterial Era amino acid and nucleic acid sequences are provided in the present invention. Vectors, host cells, protein preparations, cell cultures, and compositions comprising said analogue are also set forth in the present invention.
摘要翻译： 本发明提供筛选延迟细胞周期的试剂的方法和延迟细胞周期的方法。 具有氨基酸密码子17的精氨酸，组氨酸或赖氨酸的时代的类似物由本发明体现。 在本发明中提供了人和其他同源物的细菌时代氨基酸和核酸序列。 载体，宿主细胞，蛋白质制剂，细胞培养物和包含所述类似物的组合物也在本发明中阐述。
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16.发明授权Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease 失效常染色体显性遗传性Charcot-Marie-Tooth病的分子诊断
公开(公告)号：US5780223A
公开(公告)日：1998-07-14
申请号：US129902
申请日：1993-09-30
CPC分类号： C12Q1/6883 , C07K14/47 , C12Q1/683 , C12Q1/6858 , C12Q2600/156 , C12Q2600/158
摘要： A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.
摘要翻译： 分离的CMTIA-REP序列和序列的DNA探针的描述。 使用这种序列和探针来检测周围神经病变的方法。 通过测量与CMTIA-REP序列相关的基因位点中DNA复制的存在或不存在来检测1型Charcot-Marie-Tooth疾病的方法。 通过测量与CMTIA-REP序列相关的基因位点中DNA缺失的存在或不存在来检测遗传性神经病变与压力麻痹有关的方法。
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公开(公告)号：US5599920A
公开(公告)日：1997-02-04
申请号：US518474
申请日：1995-08-21
申请人： Pragna I. Patel , Ueli Suter , G. Jackson Snipes , Andrew Welcher , Marino DeLeon , James R. Lupski , Eric M. Shooter
发明人： Pragna I. Patel , Ueli Suter , G. Jackson Snipes , Andrew Welcher , Marino DeLeon , James R. Lupski , Eric M. Shooter
CPC分类号： C12Q1/6883 , C07K14/47 , C12Q1/683 , C12Q1/6858 , C12Q2600/156 , C12Q2600/158
摘要： The disclosed invention includes a a peripheral myelin protein, PMP-22, which is present predominantly in the peripheral nervous system and purified nucleic acids which encode the protein. Also included are oligonucleotide probes and primers derived from such sequences, and methods for the use of such sequences, probes and primers in detecting peripheral neuropathies.
摘要翻译： 所公开的发明包括主要存在于外周神经系统中的外周髓鞘蛋白PMP-22和编码该蛋白质的纯化核酸。 还包括衍生自这些序列的寡核苷酸探针和引物，以及在检测周围神经病中使用这些序列，探针和引物的方法。
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18.发明授权
公开(公告)号：US5523217A
公开(公告)日：1996-06-04
申请号：US248848
申请日：1994-05-25
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q1/6876 , C12Q1/689 , C12Q2600/16
摘要： Oligonucleotide primers and methods for identifying strains of bacteria by genomic fingerprinting are described. The methods are applicable to a variety of samples. The testing procedure includes amplifying the bacterial DNA in the sample to be tested by adding a pair of outwardly-directed primers to the sample. The primers are capable of hybridizing to repetitive DNA sequences in the bacterial DNA and extending outwardly from one hybridizable repetitive sequence to another hybridizable repetitive sequence. After amplification the extension products are separated by size and the specific strain of bacteria is determined by measuring the pattern of sized extension products. The procedure to identify strains of bacteria by fingerprinting has a variety of uses including: identifying bacteria in infections, agriculture and horticulture plots, bioremediation, food monitoring, production monitoring and quality assurance and quality control.
摘要翻译： 描述了寡核苷酸引物和通过基因组指纹识别细菌菌株的方法。 该方法适用于各种样品。 测试方法包括通过向样品中加入一对向外引物来扩增待测样品中的细菌DNA。 引物能够与细菌DNA中的重复DNA序列杂交并从一个可杂交的重复序列向外延伸到另一个可杂交的重复序列。 扩增后，延伸产物按大小分离，细菌的特异菌株通过测量大小的延伸产物的图案来确定。 通过指纹识别细菌菌株的方法有多种用途，包括：鉴定感染，农业和园艺地块中的细菌，生物修复，食品监测，生产监测和质量保证以及质量控制。
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