VARIANT OF HNF-1alpha GENE HAVING SINGLE NUCLEOTIDE POLYMORPHISM AND VARIANT OF PROTEIN ENCODED BY THE SAME

摘要

PPROBLEM TO BE SOLVED: To provide a polynucleotide or fragment of nucleic acid containing a single nucleotide polymorphism of a human HNF-1 gene. PSOLUTION: Nucleic acid fragment comprises a polymorphic site of a specific sequence having adenine (A) at nucleotide position 1699, or a polymorphic site of a specific sequence having thymine (T) at nucleotide position 29, and comprising more than 10 continuous nucleotides originated from the more than one specific nucleotide sequences or nucleic acid fragment complementary to the fragments. The nucleic acid fragment is effectively used for diagnosis of maturity onset diabetes mellitus of youth (MODY). The allele-specific oligonucleotide can be used as probes or primers for diagnosis of the MODY. The variant or its fragment of the human HNF-1 gene can be effectively used for diagnosis of the MODY. The method for analysis of protein can be effectively used for diagnosis of the MODY through analysis of peptide sequence. PCOPYRIGHT: (C)2004,JPO