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    • 4. 发明申请
    • METHOD FOR ASSESSING RISK FOR CARDIAC DYSRHYTHMIA IN A HUMAN SUBJECT
    • 用于评估人类受试者心脏硬膜血症风险的方法
    • WO02086447A3
    • 2003-02-27
    • PCT/US0212652
    • 2002-04-22
    • UNIV UTAH RES FOUNDPTACEK LOUISFU YING-HUI
    • PTACEK LOUISFU YING-HUI
    • C12Q1/68C07H21/02C07H21/04C12P19/34
    • C12Q1/6883C12Q2600/156
    • 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 wild-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 relates to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.
    • 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。 与野生型序列相比,KCNJ2基因或Kir2.1可以进行筛选。 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。 本发明还涉及与野生型序列相比具有一个或多个改变的分离的核酸分子。
    • 5. 发明申请
    • METHOD FOR ASSESSING RISK FOR CARDIAC DYSRHYTHMIA IN A HUMAN SUBJECT
    • 用于评估人类受试者心脏硬膜血症风险的方法
    • WO2002086447A2
    • 2002-10-31
    • PCT/US2002/012652
    • 2002-04-22
    • UNIVERSITY OF UTAH RESEARCH FOUNDATIONPTACEK, LouisFU, Ying-Hui
    • PTACEK, LouisFU, Ying-Hui
    • G01N
    • C12Q1/6883C12Q2600/156
    • 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 wild-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 relates to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.
    • 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。 与野生型序列相比,KCNJ2基因或Kir2.1可以进行筛选。 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。 本发明还涉及与野生型序列相比具有一个或多个改变的分离的核酸分子。