gb PHARM UGT1A1
The real-time PCR diagnostic kit allows detection of variants of 5TA (UGT1A1 * 36), 7TA (UGT1A1 * 28), 8TA (UGT1A1 * 37), and 211G / A SNP UGT1A1 polymorphisms. The detection is based on the Q-FRET probe and uses the analysis of melting curves for multiplex genotyping.
The UGT1A1 gene is a part of a complex locus that encodes several UDP-glucuronosyltransferases, enzymes of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. Mutations in the UGT1A1 gene lead to mulfunctions in conjugation phase of bilirubin biotransformation.
The gb PHARM UGT1A1 diagnostic kit is intended to determine changes in a number of TA-repetitions in a UGT1A1 gene promoter (rs8175347, UGT1A1*28 (TA)7, *36 (TA)5, *37 (TA)8), and to detect a single-nucleotide mutation of UGT1A1 c.211G>A (rs4148323, UGT1A1*6). A wild-type variation of the gene, a UGT1A1*1 allele, carries 6 TA-repetitions. Homozygous UGT1A1*28 variant is, in Caucasian and Afro- American populations, the most frequent cause of Gilbert syndrome, a benign disorder associated with a mild chronic hyperbilirubinemia. In that case, the glucuronidation activity of UGT1A1 enzyme is reduced to 20-30%. In Asian populations, the main cause of Gilbert syndrome is polymorphism UGT1A1*6, in Afro-American ethnicities, it is the *36 and *37 polymorphism. Genetic variations within the UGT1A1 gene have also been associated with the development of certain drug toxicities. The UGT1A1*28 allele is associated with neutropenia and diarrhea in patients receiving the chemotherapeutic drug irinotecan.