首页> 外国专利> USE OF A NOVEL POLYMORPHISM IN THE HSGK1 GENE IN THE DIAGNOSIS OF HYPERTONIA AND USE OF THE SGK GENE FAMILY IN THE DIAGNOSIS AND THERAPY OF THE LONG QT SYNDROME

USE OF A NOVEL POLYMORPHISM IN THE HSGK1 GENE IN THE DIAGNOSIS OF HYPERTONIA AND USE OF THE SGK GENE FAMILY IN THE DIAGNOSIS AND THERAPY OF THE LONG QT SYNDROME

机译:HSGK1基因中的新多态性在诊断高渗症中的用途以及SGK基因家族在长QT综合征的诊断和治疗中的用途

摘要

The invention relates to the use of a single-stranded or double-stranded nucleic acid comprising a fragment of hsgk for diagnosing hypertension, with said fragment being at least 10 nucleotides/base pairs in length and with said fragment furthermore comprising a polymorphism with ensues from the presence or absence of an insertion of the nucleotide G at position 732/733 in intron 2 of the hsgk1 gene. The invention furthermore relates to the use of the direct correlation between the overexpression or the functional molecular modification of human homologues of the sgk family and the length of the Q/T interval for diagnosing the long Q/T syndrome, and also to the use for the nucleic acid of a human homologue of the sgk gene family or of one of its fragments for diagnosing the long Q/T syndrome. In particular, polymorphisms of individual nucleotides (U STYLE="SINGLE"single U STYLE="SINGLE"nucleotide U STYLE="SINGLE"polymorphisms=SNP) in the human homologues of the sgk gene family can also, in the present case, be used for diagnosing a genetically determined predisposition for the long Q/T syndrome. In a further aspect, the invention relates to the use of a functional activator or transcription factor which increases the expression of the genes of the sgk family for producing a pharmaceutical for the therapy and/or prophylaxis of the long Q/T syndrome.
机译:本发明涉及包含hsgk片段的单链或双链核酸在诊断高血压中的用途,其中所述片段的长度为至少10个核苷酸/碱基对,并且所述片段还包含多态性,随后来自hsgk1基因内含子2中732/733位核苷酸G插入的存在与否。本发明还涉及sgk家族的人类同源物的过表达或功能分子修饰与Q / T间隔的长度之间的直接相关性在诊断长Q / T综合征中的用途,并且还涉及sgk基因家族的人类同源物或其片段之一的核酸,用于诊断长Q / T综合征。尤其是,sgk基因家族的人类同源物中各个核苷酸的多态性(单个核苷酸 polymorphisms = SNP)也可以,在当前情况下,可用于诊断长Q / T综合征的遗传易感性。在另一方面,本发明涉及增加sgk家族基因表达的功能性激活剂或转录因子在生产用于治疗和/或预防长Q / T综合征的药物中的用途。

著录项

  • 公开/公告号EP1594983A2

    专利类型

  • 公开/公告日2005-11-16

    原文格式PDF

  • 申请/专利权人 LANG FLORIAN;

    申请/专利号EP20040708317

  • 发明设计人 LANG FLORIAN;BUSJAHN ANDREAS;

    申请日2004-02-05

  • 分类号C12Q1/68;G01N33/53;A61K31/56;A61K38/18;

  • 国家 EP

  • 入库时间 2022-08-21 21:32:55

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