What is the UGT1A1 gene polymorphism test for?
UGT1A1 Gene Polymorphism (TA Repeat) – This assay is intended for selection of colorectal cancer patients who would benefit most and experience the least toxicity from 5-FU, oxaliplatin and Irinotecan chemotherapy by determining the individual patient genotypes to guide chemotherapy choices in advanced stage colorectal …
What is UGT1A1 * 28 allele?
UGT1A1*1 is the wild-type allele associated with normal enzyme activity. The most common variant allele is UGT1A1*28, which is commonly found in African-Americans (0.42–0.45 allele frequency) and Caucasians (0.26–0.31), and is less common in Asian populations (0.09–0.16) (27, 28).
What does the UGT1A1 gene do?
Normal Function. The UGT1A1 gene belongs to a family of genes that provide instructions for making enzymes called UDP-glucuronosyltransferases. These enzymes perform a chemical reaction called glucuronidation, in which a compound called glucuronic acid is attached (conjugated) to one of a number of different substances …
What is UGT test?
This is a full gene sequencing test for UGT1A1 that includes the TA repeat region of the promoter and all intron/exon boundaries. Results are interpreted for the purposes of UGT1A1 drug metabolism and hereditary hyperbilirubinemia syndromes (Gilbert syndrome and Crigler-Najjar syndrome).
What is UGT1A1 genotyping?
The UGT1A1 Genotyping Kit is a polymerase chain reaction (PCR)-based assay that uses allele-specific probes to identify the most common Irinotecan polymorphic variant. The testing procedure involves three (3) simple steps: Isolation of DNA from whole blood.
What are UGT1A1 inhibitors?
A purine base which forms a component of DNA among other functions and is present in many multivitamins. A medication used in general anesthesia and for sedation.
Where is the UGT1A1 gene located?
Chr. Chromosome 2
UDP glucuronosyltransferase 1 family, polypeptide A1
| UGT1A1 | |
|---|---|
| External IDs | OMIM: 191740 MGI: 98898 HomoloGene: 128034 GeneCards: UGT1A1 |
| Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 233,760,270 bp End 233,773,300 bp |
What are UGT enzymes?
The UDP-glucuronosyltransferases (UGTs) are a superfamily of enzymes that catalyze the conjugation of glucuronic acid to molecules primarily to facilitate systemic elimination (Radominska-Pandya et al., 1999).
What is UGT in liver?
The UDP glucuronosyltransferases (UGT) are a family of enzymes in which substrates include drugs, xenobiotics, and products of endogenous catabolism. The main source of most UGT enzymes is the liver, a major organ in the detoxification and inactivation of compounds.
Is there a genetic test for Gilbert’s syndrome?
The combination of standard blood counts and liver enzymes with an elevated bilirubin level is an indicator of Gilbert syndrome. No other testing usually is needed, although genetic testing can confirm the diagnosis.
Which drugs are metabolized by UGT1A1?
Examples of therapeutic drug substrates of UGT1A1 are: irinotecan (SN-38), acetaminophen (paracetamol), carvedilol, etoposide, lamotrigine and simvastatin [1-3]. To date, however, anticancer drugs seem to be the predominant drug substrates clinically affected by the UGT1A1*28 polymorphism.
What can be mistaken for Gilbert’s syndrome?
It was concluded that Gilbert’s syndrome has immense clinical importance because the mild hyperbilirubinemia can be mistaken for a sign of occult, chronic, or progressive liver disease.