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.

摘要

The invention relates to the use of single- or double-stranded nucleic acids that contain a fragment of the hsgk in the diagnosis of hypertonia. The said fragment has a minimum length of 10 nucleotides/base pairs and the said fragment further comprises a polymorphism which is the result of the presence or absence of an insert of the nucleotide G in position 732/733 in intron 2 of the hsgk1 gene. The invention also relates to the use of the direct correlation between overexpression or the functional molecular modification of human homologues of the sgk family and the length of the Q/T time in the diagnosis of the Long QT syndrome, and to the use of the nucleic acid of a human homologue of the sgk gene family or of one of its fragments in the diagnosis of the Long QT syndrome. Polymorphisms of single nucleotides (single nucleotide polymorphisms = SNP) in the human homologues of the sgk gene family are especially useful in the diagnosis of a congenital predisposition for the Long QT syndrome. In another aspect, the invention relates to the use of a functional activator or a transcriptional factor which boosts expression of the genes of the sgk family for producing a drug for use in the therapy and/or the prophylaxis of the Long QT syndrome.