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1. 发明申请

US20120219029A1 Pulsed-Multiline Excitation for Color-Blind Fluorescence Detection 审中-公开
标题翻译：用于彩色荧光检测的脉冲多谱激励
公开(公告)号：US20120219029A1
公开(公告)日：2012-08-30
申请号：US13342471
申请日：2012-01-03
申请人： Graham B. I. Scott , Carter Kittrell , Robert F. Curl , Michael Metzker
发明人： Graham B. I. Scott , Carter Kittrell , Robert F. Curl , Michael Metzker
IPC分类号： H01S3/00 , G02B5/04
CPC分类号： G01J3/4406 , G01J3/021 , G01J3/10 , G01N21/6428 , G01N21/6458 , G01N2021/6419 , G01N2021/6441
摘要： The present invention provides a technology called Pulse-Multiline Excitation or PME. This technology provides a novel approach to fluorescence detection with application for high-throughput identification of informative SNPs, which could lead to more accurate diagnosis of inherited disease, better prognosis of risk susceptibilities, or identification of sporadic mutations. The PME technology has two main advantages that significantly increase fluorescence sensitivity: (1) optimal excitation of all fluorophores in the genomic assay and (2) “color-blind” detection, which collects considerably more light than standard wavelength resolved detection. Successful implementation of the PME technology will have broad application for routine usage in clinical diagnostics, forensics, and general sequencing methodologies and will have the capability, flexibility, and portability of targeted sequence variation assays for a large majority of the population.
摘要翻译：本发明提供了一种称为脉冲 - 多重激发或PME的技术。该技术提供了一种新的荧光检测方法，可应用于信息性SNP的高通量鉴定，这可以导致对遗传疾病的更准确的诊断，更好的预后风险易感性或散发性突变的鉴定。 PME技术有两个显着增加荧光灵敏度的主要优点：（1）基因组测定中所有荧光团的最佳激发和（2）“色盲”检测，其比标准波长分辨检测收集明显更多的光。 PME技术的成功实施将广泛应用于临床诊断，取证和一般测序方法中的常规应用，并将为大多数人群提供靶向序列变异测定的能力，灵活性和可移植性。

2. 发明申请

US20090156429A1 PULSED-MULTILINE EXCITATION FOR COLOR-BLIND FLUORESCENCE DETECTION 有权
标题翻译：用于彩色荧光检测的脉冲多重激活
公开(公告)号：US20090156429A1
公开(公告)日：2009-06-18
申请号：US12388358
申请日：2009-02-18
申请人： Graham B.I. Scott , Carter Kittrell , Robert F. Curl , Michael Metzker
发明人： Graham B.I. Scott , Carter Kittrell , Robert F. Curl , Michael Metzker
IPC分类号： C40B30/10 , C12Q3/00
CPC分类号： G01J3/4406 , G01J3/021 , G01J3/10 , G01N21/6428 , G01N21/6458 , G01N2021/6419 , G01N2021/6441
摘要： The present invention provides a technology called Pulse-Multiline Excitation or PME. This technology provides a novel approach to fluorescence detection with application for high-throughput identification of informative SNPs, which could lead to more accurate diagnosis of inherited disease, better prognosis of risk susceptibilities, or identification of sporadic mutations. The PME technology has two main advantages that significantly increase fluorescence sensitivity: (1) optimal excitation of all fluorophores in the genomic assay and (2) “color-blind” detection, which collects considerably more light than standard wavelength resolved detection. Successful implementation of the PME technology will have broad application for routine usage in clinical diagnostics, forensics, and general sequencing methodologies and will have the capability, flexibility, and portability of targeted sequence variation assays for a large majority of the population.
摘要翻译：本发明提供了一种称为脉冲 - 多重激发或PME的技术。该技术提供了一种新的荧光检测方法，可应用于信息性SNP的高通量鉴定，这可以导致对遗传疾病的更准确的诊断，更好的预后风险易感性或散发性突变的鉴定。 PME技术有两个显着增加荧光灵敏度的主要优点：（1）基因组测定中所有荧光团的最佳激发和（2）“色盲”检测，其比标准波长分辨检测收集明显更多的光。 PME技术的成功实施将广泛应用于临床诊断，取证和一般测序方法中的常规应用，并将为大多数人群提供靶向序列变异测定的能力，灵活性和可移植性。

3. 发明申请

US20060139634A1 Pulsed-multiline excitation for color-blind fluorescence detection 有权
公开(公告)号：US20060139634A1
公开(公告)日：2006-06-29
申请号：US11248910
申请日：2005-10-12
申请人： Graham Scott , Carter Kittrell , Robert Curl , Michael Metzker
发明人： Graham Scott , Carter Kittrell , Robert Curl , Michael Metzker
IPC分类号： G01J3/30
CPC分类号： G01J3/4406 , G01J3/021 , G01J3/10 , G01N21/6428 , G01N21/6458 , G01N2021/6419 , G01N2021/6441
摘要： The present invention provides a technology called Pulse-Multiline Excitation or PME. This technology provides a novel approach to fluorescence detection with application for high-throughput identification of informative SNPs, which could lead to more accurate diagnosis of inherited disease, better prognosis of risk susceptibilities, or identification of sporadic mutations. The PME technology has two main advantages that significantly increase fluorescence sensitivity: (1) optimal excitation of all fluorophores in the genomic assay and (2) “color-blind” detection, which collects considerably more light than standard wavelength resolved detection. This technology differs significantly from the current state-of-the-art DNA sequencing instrumentation, which features single source excitation and color dispersion for DNA sequence identification. Successful implementation of the PME technology will have broad application for routine usage in clinical diagnostics, forensics, and general sequencing methodologies and will have the capability, flexibility, and portability of targeted sequence variation assays for a large majority of the population.

4. 发明授权

US07005290B1 Best's macular dystrophy gene 失效
标题翻译：最佳黄斑营养不良基因
公开(公告)号：US07005290B1
公开(公告)日：2006-02-28
申请号：US09622964
申请日：1999-02-22
申请人： Konstantin Petrukhin , C. Thomas Caskey , Michael Metzker , Claes Wadelius
发明人： Konstantin Petrukhin , C. Thomas Caskey , Michael Metzker , Claes Wadelius
IPC分类号： C07H21/04 , C12N15/63 , C12N1/21
CPC分类号： C07K14/47
摘要： Novel human and mouse DNA sequences that encode the gene CG1CE, which, when mutated, is responsible for Best's macular dystrophy, are provided. Provided are genomic CG1CE DNA as well as cDNA that encodes the CG1CE protein. Also provided is CG1CE protein encoded by the novel DNA sequences. Methods of expressing CG1CE protein in recombinant systems are provided. Also provided are diagnostic methods that detect patients having mutant CG1CE genes.
摘要翻译：提供了编码基因CG1CE的新型人和小鼠DNA序列，其在突变时导致最佳黄斑营养不良症。提供基因组CG1CE DNA以及编码CG1CE蛋白的cDNA。还提供了由新型DNA序列编码的CG1CE蛋白。提供了在重组体系中表达CG1CE蛋白的方法。还提供了检测具有突变型CG1CE基因的患者的诊断方法。

5. 发明申请

US20060105364A1 Best's macular dystrophy gene 审中-公开
公开(公告)号：US20060105364A1
公开(公告)日：2006-05-18
申请号：US11236238
申请日：2005-09-27
申请人： Konstantin Petrukhin , C. Caskey , Michael Metzker , Claes Wadelius
发明人： Konstantin Petrukhin , C. Caskey , Michael Metzker , Claes Wadelius
IPC分类号： C12Q1/68 , C07H21/04 , C12P21/06 , C07K14/705
CPC分类号： C12Q1/6883 , C07K14/705 , C12Q2600/156 , C12Q2600/158
摘要： Novel human and mouse DNA sequences that encode the gene CG1CE, which, when mutated, is responsible for Best's macular dystrophy, are provided. Provided are genomic CG1CE DNA as well as cDNA that encodes the CG1CE protein. Also provided is CG1CE protein encoded by the novel DNA sequences. Methods of expressing CG1CE protein in recombinant systems are provided. Also provided are diagnostic methods that detect patients having mutant CG1CE genes.

6. 发明申请

US20050136425A1 DNA molecules encoding human NHL, a DNA helicase 失效
标题翻译：编码人类NHL的DNA分子，DNA解旋酶
公开(公告)号：US20050136425A1
公开(公告)日：2005-06-23
申请号：US10859792
申请日：2004-06-03
申请人： Xiaomei Liu , Chang Bai , Michael Metzker
发明人： Xiaomei Liu , Chang Bai , Michael Metzker
IPC分类号： C12N1/21 , C12N9/90 , C12Q1/68 , C07H21/04 , C12N9/22
CPC分类号： C12N9/90
摘要： The present invention disclosed isolated nucleic acid molecules (polynucleotides) which encode NHL, a putative DNA helicase. The present invention in turn relates to recombinant vectors and recombinant hosts which contain a DNA fragment encoding NHL, substantially purified forms of associated NHL, associated mutant proteins, and methods associated with identifying compounds which modulate NHL, which will be useful in the treatment of various neoplastic disorders. Both a genomic clone containing regulatory and intron sequences, as well as the exon structure and open reading frame of human NHL are disclosed.
摘要翻译：本发明公开了编码NHL的分离的核酸分子（多核苷酸），即推定的DNA解旋酶。本发明又涉及重组载体和重组宿主，其含有编码NHL的DNA片段，基本上纯化的相关NHL形式，相关的突变型蛋白质，以及与识别调节NHL的化合物相关的方法，其可用于各种治疗肿瘤性疾病。公开了含有调节和内含子序列的基因组克隆，以及人NHL的外显子结构和开放阅读框。

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