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UGT1A1-TATA Box Dinucleotide Repeats-PCR real time 

Quantification assay of UGT1A1-TATA Box Dinucleotide Repeats           cod. BM-034

Principle of the test: Quantification of UGT1A1-TATA Box Dinucleotide Repeats

Technology: Real Time PCR

Gene Target: UGT1A1 promoter

Specimen: DNA

Reporting Units: Genotype

Number of tests: 25 tests BM-034

Kit storage: -20°C

Necessary equipment: CFX96 DetectionSystem

Status: Ready to use

UGT1A1-TATA Box Dinucleotide Repeats-PCR real time  cod. BM-034

Quantification assay of UGT1A1-TATA Box Dinucleotide Repeats 

·      UGT1A1-TATA Box Dinucleotide Repeats-PCR real time complete kit 25 tests BM-034

The UGT1A1-TATA Box HRM BM-034  is a research use only (RUO) assay for the evaluation of UGT1A1 gene variants.

UGT1A1 gene, coding for uridine diphosphate glucuronosyltransferase (UDP-glucuronosyltransferase, UDPGT), is an enzyme belonging to the glucuronidation pathway and responsible for the conversion of lipophilic small molecules (sterorides, bilirubin, hormones and drugs) into water-soluble metabolites.
Mutations in its promoter at the TATA Box result in the manifestation of a benign condition called Gilbert syndrome. This syndrome occurs in 8 percent of the population and is characterized by chronic nonhemolytic, unconjugated hyperbilirubinemia.
The mutation responsible for this condition results in the presence of two additional base pairs (TA) in the TATAA promoter sequence leading to 7 TA repeats (A[TA]7TAA UGT1A1*28) compared to 6 in the normal condition (UGT1A1*1) and is related to an impairment of proper messenger transcription resulting in reduced enzyme activity, proportional to the number of dinucleotide repeats.

Individuals with Gilbert syndrome are predominantly homozygous for the UGT1A1*28 allelic variant, with some cases showing the presence of the UGT1A1*37 allele, which possesses 8 dinucleotide repeats, either in homozygosity or heterozygosity with the UGT1A1*28 allele. In addition, the protein encoded by the UGT1A1 gene plays an important role in the metabolism of several drugs, such as irinotecan, belinostat, pazopanib, and nilotinib.
The chemotherapeutic drug Irinotecan, used predominantly for colorectal cancer, is one of the targets metabolized by this enzyme, but reduced metabolic activity, in individuals with UGT1A1*28 and UGT1A1*37 allelic variants, can cause toxicity with neutropenia, diarrhea, and the need for remodulation of therapy.

Reference

1.      Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.

2.      Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8170-4.