发明名称 ПРИМЕНЕНИЕ НОВОГО ПОЛИМОРФИЗМА В ГЕНЕ HSGKI ДЛЯ ДИАГНОСТИКИ ГИПЕРТОНИИ И ПРИМЕНЕНИЕ ГЕНОВ СЕМЕЙСТВА SGK ДЛЯ ДИАГНОСТИКИ И ТЕРАПИИ СИНДРОМА УДЛИНЕННОГО Q/T-ПЕРИОДА
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.
申请公布号 RU2005127807(A) 申请公布日期 2006.03.20
申请号 RU20050127807 申请日期 2004.02.05
申请人 ЛАНГ Флориан (DE) 发明人 БУСЙАН Андреас (DE)
分类号 C12Q1/68;A61K31/56;A61K38/18;G01N33/573;G01N33/68 主分类号 C12Q1/68
代理机构 代理人
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