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METHODS FOR DETECTING BRUGADA SYNDROME

机译:检测布鲁格达氏综合症的方法

摘要

The invention provides a method of identifying a presence of Brugada Syndrome in a subject. In exemplary embodiments, the method comprises the steps of (i) analyzing a biological sample obtained from the subject for (a) a level of full-length messenger RNA (mRNA) encoded by the SCN5A gene, (b) a level of mRNA of an SCN5A splice variant which encodes a truncated SCN5A protein, (c) a level of mRNA encoded by a SCN5A splicing factor gene, and/or (d) a level of mRNA encoded by a gene of the unfolded protein response (UPR); and (ii) identifying the presence of Brugada Syndrome in the subject, when the level of (a), (b), and/or (d) are reduced, relative to a control level, and/or when the level of (c) is increased, relative to a control level.
机译:本发明提供了鉴定受试者中Brugada综合征的存在的方法。在示例性实施方案中,该方法包括以下步骤:(i)分析从受试者获得的生物学样品的(a)SCN5A基因编码的全长信使RNA(mRNA)的水平,(b)SCN5A基因编码的mRNA的水平。 SCN5A剪接变体,其编码截短的SCN5A蛋白,(c)由SCN5A剪接因子基因编码的mRNA的水平,和/或(d)由未折叠蛋白应答(UPR)的基因编码的mRNA的水平; (ii)当相对于对照水平降低(a),(b)和/或(d)的水平时,和/或(c)的水平时,确定受试者中是否存在Brugada综合征。 )相对于控制水平有所增加。

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