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NOVEL GENE PANEL FOR THE DIAGNOSIS OF DILATED CARDIOMYOPATHY

机译:新型基因组诊断扩张型心肌病

摘要

The application relates to a method for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM or the risk of heart failure comprising: (i) determining in a sample of a subject to be diagnosed the sequence of one or more polymorphisms in a (first) panel of genes, wherein the panel of genes comprises the genes of the group consisting of PIEZO1, PLEC, HELZ2, NACAD, PKD1, IGSF10, TNRC18, UNC13B, VWF, and XIRP2; (ii) comparing the determined sequence to the sequence of said polymorphism in a control derived from a control subject (control sequence), the control subject not suffering from dilated cardiomyopathy; and (iii) attributing the presence of dilated cardiomyopathy or the risk of acquiring DCM or the risk of heart failure to said subject to be diagnosed if one or more determined sequences differ from the respective sequence in said control sequence. Furthermore, the application relates to a kit or array for diagnosing dilated cardiomyopathy (DCM) in a subject or for assessing the risk of a subject to acquire DCM comprising means for determining the sequence of one or more polymorphisms in a (first) panel of genes comprising probes for detecting a one or more SNP within each gene of the first panel of genes.
机译:本申请涉及一种用于诊断受试者中的扩张型心肌病(DCM)或评估受试者获得DCM的风险或心力衰竭的风险的方法,其包括:(i)在待诊断的受试者的样品中确定所述序列。 (第一)基因组中的一个或多个多态性,其中该基因组包含由PIEZO1,PLEC,HELZ2,NACAD,PKD1,IGSF10,TNRC18,UNC13B,VWF和XIRP2组成的组的基因; (ii)将确定的序列与来自对照对象的对照中的所述多态性的序列(对照序列)进行比较,所述对照对象没有患有扩张型心肌病; (iii)如果一个或多个确定的序列不同于所述对照序列中的相应序列,则将扩张的心肌病的存在或获得DCM的风险或心力衰竭的风险归因于所述被诊断的受试者。此外,本申请涉及用于诊断受试者中的扩张型心肌病(DCM)或评估受试者获得DCM的风险的试剂盒或阵列,所述试剂盒或阵列包括用于确定(第一)基因组中一个或多个多态性的序列的装置。包含用于检测第一组基因的每个基因内的一个或多个SNP的探针。

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