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11 条记录 (耗时 0.019 秒)

    Best's macular dystrophy gene
    1.
    发明授权
    Best's macular dystrophy gene 失效
    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。

    OB receptor isoforms and nucleic acids encoding them
    2.
    发明授权
    OB receptor isoforms and nucleic acids encoding them 失效
    OB受体亚型和编码它们的核酸

    公开(公告)号：US06258944B1

    公开(公告)日：2001-07-10

    申请号：US08827962

    申请日：1997-05-06

    申请人： C. Thomas Caskey ,  Patricia Hey ,  John W. Hess ,  Michael Sean Phillips

    发明人： C. Thomas Caskey ,  Patricia Hey ,  John W. Hess ,  Michael Sean Phillips

    IPC分类号： C12N1512

    CPC分类号： C07K14/5759

    摘要： The ob receptor has numerous isoforms resulting from alternative splicaing; three novel isoforms, designated c′, f, and g are disclosed. The nucleic acids encoding these isoforms are taught. Also part of the invention are vectors containing the nucleic acid encoding the receptors, host cells transformed with these genes, and assays which use the genes or protein isoforms.

    摘要翻译： ob受体具有许多来自替代接枝的异构体; 公开了三种称为c'，f和g的新型异构体。 教导编码这些同种型的核酸。 本发明还有一部分是含有编码受体的核酸，用这些基因转化的宿主细胞的载体，以及使用基因或蛋白质同种型的测定法。

    Diagnosis of myotonic muscular dystrophy
    4.
    发明授权
    Diagnosis of myotonic muscular dystrophy 失效
    诊断肌强直性肌营养不良症

    公开(公告)号：US5552282A

    公开(公告)日：1996-09-03

    申请号：US484044

    申请日：1993-06-06

    申请人： C. Thomas Caskey ,  Ying-Hui Fu ,  David L. Friedman ,  Antonio Pizzuti ,  Raymond G. Fenwick

    发明人： C. Thomas Caskey ,  Ying-Hui Fu ,  David L. Friedman ,  Antonio Pizzuti ,  Raymond G. Fenwick

    IPC分类号： C07K14/47 ,  C12Q1/68 ,  C07H21/04 ,  C12N15/00 ,  C12P19/34

    CPC分类号： C12Q1/6883 ,  C07K14/471 ,  C12Q2600/156

    摘要： The present invention includes a DNA clone from the myotonic muscular dystrophy gene, a cosmid probe to the myotonic dystrophy site, as well as methods of detecting myotonic muscular dystrophy using RFLP. The method involves the steps of digesting DNA from an individual to be tested with a restriction endonuclease and detecting the restriction fragment length polymorphism with hybridization to probes within the myotonic muscular locus and southern blot analysis. Alternatively, the myotonic muscular dystrophy gene can be measured by determining the amount of mRNA or measuring the amount of protein with an antibody. Further, the myotonic muscular dystrophy gene defect can be detected using either fluorescence in situ hybridization or pulsed field gel electrophoresis using the probes described herein.

    摘要翻译： 本发明包括来自肌强直性营养不良基因的DNA克隆，对肌强直营养不良位点的粘粒探针，以及使用RFLP检测肌强直性营养不良的方法。 该方法包括用限制性内切核酸酶消化来自待测个体的DNA的步骤，并通过与强直肌肌肉轨迹内的探针杂交和Southern印迹分析检测限制性片段长度多态性。 或者，可以通过测定mRNA的量或用抗体测量蛋白质的量来测量肌强直性肌营养不良基因。 此外，使用本文所述的探针，可以使用荧光原位杂交或脉冲场凝胶电泳检测肌强直性肌营养不良基因缺陷。

    Parallel primer extension approach to nucleic acid sequence analysis
    5.
    发明授权
    Parallel primer extension approach to nucleic acid sequence analysis 失效
    平行引物延伸方法进行核酸序列分析

    公开(公告)号：US07001722B1

    公开(公告)日：2006-02-21

    申请号：US09711476

    申请日：2000-11-13

    申请人： C. Thomas Caskey ,  John Shumaker ,  Andres Metspalu

    发明人： C. Thomas Caskey ,  John Shumaker ,  Andres Metspalu

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02

    CPC分类号： C12Q1/6837 ,  C12Q1/6858 ,  C12Q1/6874 ,  C12Q2535/125 ,  C12Q2525/186 ,  C12Q2521/319 ,  C12Q2523/107 ,  C12Q2565/537 ,  C12Q2525/204 ,  C12Q2563/107

    摘要： A method of analyzing a polynucleotide of interest, comprising providing one or more sets of consecutive oligonucleotide primers differing within each set by one base at the growing end therof; annealing a single strand of the polynucleotide or a fragment of the polynucleotide to the oligonucleotide primers under hybridization conditions; subjecting the primers to single base extension reactions with a polymerase and terminating nucleotides, the terminating nucleotides being mutually distinguishable; and observing the location and identity of each terminating nucleotide to thereby analyze the sequence or a part of the nucleotide sequence of the polynucleotide of interest, is disclosed. An apparatus comprising a solid support to which is attached at defined locations thereon one or more sets of consecutive oligonucleotide primers differing within each set by one base at the growing end thereof is also described.

    摘要翻译： 一种分析感兴趣的多核苷酸的方法，包括在生长末端提供一组或多组连续的寡核苷酸引物，所述引物在每个组中由一个碱基不同; 在杂交条件下将多核苷酸的单链或多核苷酸的片段退火至寡核苷酸引物; 使用引物对聚合酶进行单碱基延伸反应并终止核苷酸，终止核苷酸是相互区分的; 并且观察每个终止核苷酸的位置和身份，从而分析目标多核苷酸的序列或部分核苷酸序列。 还描述了一种包含固体支持物的装置，其在其一定位置附着有一组或多组连续的寡核苷酸引物，其在其每个组中在其生长端处由一个碱基不同。

    Rat ob-receptors and nucleotides encoding them
    10.
    发明授权
    Rat ob-receptors and nucleotides encoding them 失效
    大鼠ob受体和编码它们的核苷酸

    公开(公告)号：US06281346B1

    公开(公告)日：2001-08-28

    申请号：US08803346

    申请日：1997-02-20

    申请人： John W. Hess ,  C. Thomas Caskey ,  Qingyun Liu ,  Michael Sean Phillips

    发明人： John W. Hess ,  C. Thomas Caskey ,  Qingyun Liu ,  Michael Sean Phillips

    IPC分类号： C12N1512

    CPC分类号： C07K14/72

    摘要： The rat ob receptor gene has been isolated and cloned. Two different alleles have been identified: the wild-type, and the fa-allele which differs from the wild type by only one base pair. The base pair change, however introduces an MspI restriction site into the DNA sequence, and also results in an amino acid change. Also part of the invention are the receptors, vectors containing the nucleic acid encoding the receptors, host cells transformed with this gene, and assays which use the gene or protein and identify new ligands.

    摘要翻译： 已经分离和克隆了大鼠ob受体基因。 已经鉴定了两种不同的等位基因：野生型和fa型等位基因仅与一个碱基对不同于野生型。 碱基对改变然后将MspI限制性位点引入DNA序列，并导致氨基酸变化。 本发明的一部分还包括受体，含有编码受体的核酸的载体，用该基因转化的宿主细胞，以及使用该基因或蛋白质并鉴定新配体的测定法。