A variant of HNF-1a gene having novel single nucleotide polymorphism and a variant protein encoded by the same

摘要

PURPOSE: A variant of HNF-1a gene having novel single nucleotide polymorphism and a variant protein encoded by the same gene are provided. The variant of HNF-1a and the variant protein are useful for diagnosis of MODY(maturity onset diabetes of the young) disease. CONSTITUTION: A variant of HNF-1a gene having novel single nucleotide polymorphism is a nucleic acid fragment containing a polymorphic site of base A at nucleotide position 1699 in the nucleotide sequence set forth in SEQ ID NO: 1 or a polymorphic site of base T at nucleotide position 29 in the nucleotide sequence set forth in SEQ ID NO: 3, and 10 or more of consecutive nucleotides derived from the nucleotide sequences of SEQ ID NO: 1 or SEQ ID NO: 3, or a complementary gene thereof. An allele specific oligonucleotide hybridized with the nucleic acid fragment or complementary gene thereof is provided, wherein the allele specific oligonucleotide is a probe or a primer.