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Gilbert Syndrome is a mild, inherited autosomal recessive disorder that results in elevated levels of unconjugated (indirect) bilirubin in the blood—a condition known as hyperbilirubinemia. It is one of the most common genetic causes of intermittent jaundice, often appearing during periods of fasting, illness, stress, or exertion.
The condition is caused by a partial deficiency of the UGT1A1 enzyme (uridine diphosphate-glucuronosyltransferase 1A1), which is responsible for converting unconjugated bilirubin into a water-soluble form that can be excreted by the liver. This enzyme is encoded by the UGT1A1 gene, and mutations or polymorphisms—such as the common A(TA)7TAA variant—lead to reduced enzyme activity.
Although Gilbert Syndrome is considered benign and non-progressive, accurate diagnosis is important to differentiate it from more serious liver or hemolytic conditions. Understanding a patient’s UGT1A1 genotype can also be clinically relevant in the context of drug metabolism, particularly for medications like irinotecan, which are processed by the same enzyme pathway.
UGT1A1, or UDP glucuronosyltransferase family 1 member A1, is a gene that codes for the enzyme responsible for the glucuronidation process—a critical pathway for bilirubin metabolism. Alterations in this gene can lead to varying levels of UGT enzyme activity, causing conditions like Gilbert’s Syndrome, characterized by mild jaundice due to elevated levels of unconjugated bilirubin.
Gilbert’s Syndrome is an autosomal recessive disease caused by partial deficiency of the UGT enzyme. This deficiency is often due to the expansion of dinucleotides (TAx) in the TATA-box, which promotes transcription of the UGT1A1 gene, located on chromosome 2q37. The presence of the A(TA)7TAA, A(TA)5TAA, and A(TA)8TAA alleles alters the normal transcription of the bilirubin-UGT enzyme, leading to Gilbert Syndrome.
The first step in the detection process is Polymerase Chain Reaction (PCR) amplification. This technique allows lab technicians to amplify the target UGT1A1 alleles, yielding enough material for further analysis. PCR is a reliable, highly sensitive method that is easily adapted to different laboratory settings.
After PCR amplification, the next step is fragment analysis, where PCR products are separated by capillary electrophoresis based on their length. This method offers precise detection of the allele variants.
The UGT1A1 PCR and fragment analysis kit is designed to detect both normal and mutant alleles—A(TA)5TAA, A(TA)7TAA, and A(TA)8TAA—of the UGT1A1 gene.
The ability to detect and differentiate UGT1A1 gene alleles is crucial for diagnosing conditions like Gilbert’s Syndrome and for guiding personalized treatment plans. The UGT1A1 PCR and fragment analysis kit serves as an indispensable tool for lab technicians, enabling accurate, efficient, and reliable testing of UGT1A1.
This kit contains enough reagents to perform 48 reactions. The reagents included in this kit are as follows:
Instructions for Use
MSDS Gilbert Plus UGT1A1 PCR Kit
For any missing information or if you require additional details, please do not hesitate to contact us.