Patent ID: 6187533
Filing Date: 2001-02-13
Classification: C07K,C12Q

Abstract:
A method for detecting whether a human has or has a propensity for a MODY diabetic disease state indicated by the presence or absence of a mutation in an HNF1.alpha. gene, an HNF4.alpha. gene, or an HNF1.beta. gene of the human, said method comprising:a) obtaining sample nucleic acid from a human; andb) analyzing the sample nucleic acid to detect a mutation in an HNF-encoding nucleic acid segment, wherein the mutation in an HNF-encoding nucleic acid segment is (I) a mutation which results in a change in the amino acid sequence of an HNF encoded polypeptide different from wildtype, or (ii) a mutation selected from the group consisting of a truncation, a substitution, a frameshift, a mutation which results in differential splicing of the HNF gene, and a mutation in the promoter region of the HNF gene, such that the expression or activity of the HNF encoded polypeptide is reduced or eliminated, and wherein the HNF-encoding nucleic acid segment is further defined as an HNF1.alpha.-encoding nucleic acid segment, an HNF4.alpha.-encoding nucleic acid segment, or an HNF1.beta.-encoding nucleic acid segment;wherein the mutation in the HNF-encoding nucleic acid segment is indicative of the human having a MODY diabetic disease state or having a propensity for a MODY diabetic disease state indicated by a mutation in an HNF1.alpha. gene, an HNF4.alpha. gene, or an HNF1.beta. gene of the human.