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    Methods for assessing risk for cardiac dysrythmia in a human subject
    1.
    发明授权
    Methods for assessing risk for cardiac dysrythmia in a human subject 有权
    评估人类受试者心脏失血风险的方法

    公开(公告)号：US07306911B2

    公开(公告)日：2007-12-11

    申请号：US10475452

    申请日：2002-04-22

    申请人： Louis Ptacek ,  Ying-Hui Fu

    发明人： Louis Ptacek ,  Ying-Hui Fu

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to methods for assessing the risk of a patient for developing a potentially fatal cardiac dysrhythmia and for diagnosing Andersen's Syndrome. A tissue sample from a patient is obtained and the DNA or proteins of the sample isolated. From the DNA and protein isolates the sequence of the KCNJ2 gene or the Kir2.1 polypeptide can be obtained. The KCNJ2 gene or the Kir2.1 can be screened for alteration as compared to the wile-type sequence. An alteration in a copy of the KCNJ2 gene or a Kir2.1 polypeptide indicates that the patient has a high risk for developing a cardiac dysrhythmia and can be diagnosed with Andersen's Syndrome. The invention also related to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.

    摘要翻译： 本发明涉及用于评估患者发展潜在致命性心脏心律失常并用于诊断安徒生综合征的风险的方法。 获得来自患者的组织样品，并分离样品的DNA或蛋白质。 从DNA和蛋白质分离物可以获得KCNJ2基因或Kir2.1多肽的序列。 与Wile型序列相比，可以筛选KCNJ2基因或Kir2.1，以进行改变。 KCNJ2基因或Kir2.1多肽拷贝的改变表明患者发生心脏性心律失常的风险很高，可以诊断为安徒生综合征。 与野生型序列相比，本发明还涉及具有一个或多个改变的分离的核酸分子。

    Methods for assessing risk for cardiac dysrythmia in a human subject
    2.
    发明申请
    Methods for assessing risk for cardiac dysrythmia in a human subject 有权
    评估人类受试者心脏失血风险的方法

    公开(公告)号：US20050175995A1

    公开(公告)日：2005-08-11

    申请号：US10475452

    申请日：2002-04-22

    申请人： Louis Ptacek ,  Ying-Hui Fu

    发明人： Louis Ptacek ,  Ying-Hui Fu

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to methods for assessing the risk of a patient for developing a potentially fatal cardiac dysrhythmia and for diagnosing Andersen's Syndrome. A tissue sample from a patient is obtained and the DNA or proteins of the sample isolated. From the DNA and protein isolates the sequence of the KCNJ2 gene or the Kir2.1 polypeptide can be obtained. The KCNJ2 gene or the Kir2.1 can be screened for alteration as compared to the wile-type sequence. An alteration in a copy of the KCNJ2 gene or a Kir2.1 polypeptide indicates that the patient has a high risk for developing a cardiac dysrhythmia and can be diagnosed with Andersen's Syndrome. The invention also related to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.

    摘要翻译： 本发明涉及用于评估患者发展潜在致命性心脏心律失常并用于诊断安徒生综合征的风险的方法。 获得来自患者的组织样品，并分离样品的DNA或蛋白质。 从DNA和蛋白质分离中可以获得KCNJ2基因或Kir2.1多肽的序列。 与Wile型序列相比，可以筛选KCNJ2基因或Kir2.1，以进行改变。 KCNJ2基因或Kir2.1多肽拷贝的改变表明患者发生心脏性心律失常的风险很高，可以诊断为安徒生综合征。 与野生型序列相比，本发明还涉及具有一个或多个改变的分离的核酸分子。

    Methods for assessing risk for cardiac dysrythmia in a human subject
    3.
    发明申请
    Methods for assessing risk for cardiac dysrythmia in a human subject 审中-公开
    评估人类受试者心脏失血风险的方法

    公开(公告)号：US20080220430A1

    公开(公告)日：2008-09-11

    申请号：US11981388

    申请日：2007-10-30

    申请人： Louis Ptacek ,  Ying-Hui Fu

    发明人： Louis Ptacek ,  Ying-Hui Fu

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to methods for assessing the risk of a patient for developing a potentially fatal cardiac dysrhythmia and for diagnosing Andersen's Syndrome. A tissue sample from a patient is obtained and the DNA or proteins of the sample isolated. From the DNA and protein isolates the sequence of the KCNJ2 gene or the Kir2.1 polypeptide can be obtained. The KCNJ2 gene or the Kir2.1 can be screened for alteration as compared to the wile-type sequence. An alteration in a copy of the KCNJ2 gene or a Kir2.1 polypeptide indicates that the patient has a high risk for developing a cardiac dysrhythmia and can be diagnosed with Andersen's Syndrome. The invention also related to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.

    摘要翻译： 本发明涉及用于评估患者发展潜在致命性心脏心律失常并用于诊断安徒生综合征的风险的方法。 获得来自患者的组织样品，并分离样品的DNA或蛋白质。 从DNA和蛋白质分离物可以获得KCNJ2基因或Kir2.1多肽的序列。 与Wile型序列相比，可以筛选KCNJ2基因或Kir2.1，以进行改变。 KCNJ2基因或Kir2.1多肽拷贝的改变表明患者发生心脏性心律失常的风险很高，可以诊断为安徒生综合征。 与野生型序列相比，本发明还涉及具有一个或多个改变的分离的核酸分子。

    Mass 1 gene, a target for anticonvulsant drug development
    4.
    发明申请
    Mass 1 gene, a target for anticonvulsant drug development 审中-公开
    Mass 1基因，抗惊厥药物开发的目标

    公开(公告)号：US20050015822A1

    公开(公告)日：2005-01-20

    申请号：US10912280

    申请日：2004-08-04

    申请人： Louis Ptacek ,  H. White ,  Ying-Hui Fu ,  Shana Skradski

    发明人： Louis Ptacek ,  H. White ,  Ying-Hui Fu ,  Shana Skradski

    IPC分类号： C07K14/47 ,  C12P21/04 ,  A01K67/027 ,  C12N5/06

    CPC分类号： C07K14/47 ,  A01K2217/05 ,  A01K2217/075 ,  C12N2517/02

    摘要： The present invention relates to a novel gene which is associated with audiogenic seizures in mice. The gene is known as the Monogenic Audiogenic Seizure-susceptible gene or mass1. The product of the mass1 gene is designated MASS1. Nucleic acid molecules that encode for MASS1 have been identified and purified. The sequence of murine mass1 can be found at SEQ ID NO: 1, and the sequence of human mass1 can be found at SEQ ID NO: 3. Mammalian genes encoding a MASS1 protein are also provided. The invention also provides recombinant vectors comprising nucleic acid molecules that code for a MASS1 protein. These vectors can be plasmids. In certain embodiments, the vectors are prokaryotic or eukaryotic expression vectors. The nucleic acid coding for MASS1 can be linked to a heterologous promoter. The invention also relates to transgenic animals in which one or both alleles of the endogenous mass1 gene is mutated.

    摘要翻译： 本发明涉及与小鼠中的听觉发作相关的新基因。 该基因被称为单因子感觉性发作敏感基因或质量1。 mass1基因的产物命名为MASS1。 编码MASS1的核酸分子已被鉴定和纯化。 鼠群1的序列可以在SEQ ID NO：1中找到，并且人质粒1的序列可以在SEQ ID NO：3中找到。还提供了编码MASS1蛋白的哺乳动物基因。 本发明还提供了包含编码MASS1蛋白的核酸分子的重组载体。 这些载体可以是质粒。 在某些实施方案中，载体是原核或真核表达载体。 编码MASS1的核酸可以与异源启动子连接。 本发明还涉及转基因动物，其中内源mass1基因的一个或两个等位基因被突变。

    Mass1 gene, a target for anticonvulsant drug development
    6.
    发明授权
    Mass1 gene, a target for anticonvulsant drug development 失效
    Mass1基因，抗惊厥药物开发的目标

    公开(公告)号：US06794187B2

    公开(公告)日：2004-09-21

    申请号：US10220587

    申请日：2002-09-03

    申请人： Louis J. Ptacek ,  H. Steve White ,  Ying-Hui Fu ,  Shana Skradski

    发明人： Louis J. Ptacek ,  H. Steve White ,  Ying-Hui Fu ,  Shana Skradski

    IPC分类号： C12N516

    CPC分类号： C07K14/47 ,  A01K2217/05 ,  A01K2217/075 ,  C12N2517/02

    摘要： The present invention relates to a novel gene which is associated with audiogenic seizures in mice. The gene is known as the Monogenic Audiogenic Seizure-susceptible gene or mass1. The product of the mass1 gene is designated MASS1. Nucleic acid molecules that encode for MASS1 have been identified and purified. The sequence of murine mass1 can be found at SEQ ID NO: 1, and the sequence of human mass1 can be found at SEQ ID NO: 3. Mammalian genes encoding a MASS1 protein are also provided. The invention also provides recombinant vectors comprising nucleic acid molecules that code for a MASS1 protein. These vectors can be plasmids. In certain embodiments, the vectors are prokaryotic or eukaryotic expression vectors. The nucleic acid coding for MASS1 can be linked to a heterologous promoter. The invention also relates to transgenic animals in which one or both alleles of the endogenous mass1 gene is mutated.

    摘要翻译： 本发明涉及与小鼠中的听觉发作相关的新基因。 该基因被称为单因子感觉性发作敏感基因或质量1。 mass1基因的产物命名为MASS1。 编码MASS1的核酸分子已被鉴定和纯化。 鼠群1的序列可以在SEQ ID NO：1中找到，并且人质粒1的序列可以在SEQ ID NO：3中找到。还提供了编码MASS1蛋白的哺乳动物基因。 本发明还提供了包含编码MASS1蛋白的核酸分子的重组载体。 这些载体可以是质粒。 在某些实施方案中，载体是原核或真核表达载体。 编码MASS1的核酸可以与异源启动子连接。 本发明还涉及转基因动物，其中内源mass1基因的一个或两个等位基因被突变。

    Diagnosis of myotonic muscular dystrophy
    7.
    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。