Gilbert syndrome, an autosomal recessive hereditary disease, is characterized by elevated levels of unconjugated or indirect bilirubin in the blood, typically known as hyperbilirubinemia.
The disease is caused by a partial deficiency of the glucuronyltransferase enzyme, encoded by the UGT1A1 gene. This enzyme is vital in eliminating bilirubin from the liver.
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.
UGT1A1 and Gilbert’s Syndrome
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.
UGT1A1 Detection Using the UGT1A1 PCR and Fragment Analysis Kit
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: