SINGLE NUCLEOTIDE POLYMORPHIC OF UDP-GLUCURONOSYLTRANSFERASE 1A4 AND USE THEREOF

摘要

The present invention relates to a single base polymorphism of the UDP-glucuronosyltransferase 1A4 (hereinafter referred to as 'UGT1A4') gene and its use. More specifically, the present invention relates to a method for diagnosing a disease caused by a deficiency of the UGT1A4 enzyme by confirming the presence or absence of a polynucleotide containing a base substituted with a C from T for the 2nd base of the UGT1A4 gene of SEQ ID NO: 1. It is about.;Due to the monobasic polymorphism of the UGT1A4 gene according to the present invention, a normal UGT1A4 enzyme may not be produced and a production of a protein fragment lacking function may be induced, thereby causing a disease due to a deficiency of the UGT1A4 enzyme. Thus, by analyzing the single nucleotide polymorphism of the UGT1A4 gene it is possible to diagnose diseases caused by the deficiency of the UGT1A4 enzyme.;UGT1A4, Monobasic Polymorphism