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UGT1A1-TATA Box Dinucleotide Repeats-PCR real time 

Quantification assay of UGT1A1-TATA Box Dinucleotide Repeats markers of Gilbert’s Syndrome          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 markers of Gilbert’s Syndrome

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

Gilbert’s syndrome is a mild disorder that occurs in up to 8% of the population in which bilirubin in the blood builds up to levels that are higher than normal. Bilirubin is a yellow waste product that results from the breakdown of old red blood cells. Gilbert syndrome is a chronic, nonhemolytic, unconjugated hyperbilirubinemia associated with increased thymine-adenine (TA) repeats within the promoter of UGT1A1. More specifically, the variant promoter contains a two base-pair addition (TA) in the TATAA promoter element, giving rise to 7 (A[TA]7TAA) rather than the more usual 6 (A[TA]6TAA) repeats and is termed UGT1A1*28. The extra TA repeat (A[TA]7TAA) impairs proper message transcription and accounts for a reduced UGT1A1 activity22. As the repeat number increases, UGT1A1 activity decreases. Subjects with Gilbert syndrome are homozygous for the UGT1A1*28 variant promoter, providing a unique genetic marker for this disorder

We have established a novel real-time PCR analysis able to discriminate (TA)5, (TA)6, (TA)7 and (TA)8 alleles. This method is based on real-time PCR. A genetic test for Gilbert’s syndrome would provide a positive diagnosis for this condition and may, in theory, aid in the management of a patient found to have an isolated increased bilirubin. User friendly and complete, the UGT1A1-TATA Box Dinucleotide Repeats-PCR real time detection kit is suitable for any laboratory.

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.