2 results match your criteria repeats ugt1a1*37

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TaqMan real time PCR for the Detection of the Gilbert's Syndrome Markers UGT1A1*28; UGT1A1*36 and UGT1A1*37.

Mol Biol Rep 2021 May 4;48(5):4953-4959. Epub 2021 Jun 4.

Department of Public Health and Pediatrics, School of Medicine, University of Turin, Piazza Polonia 94, 10126, Turin, Italy.

Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The key of this disease is a diminished activity of UDP-glucuronosyltransferase 1A1 (UGT1A1). TA insertion into the TATA box promoter region of the UGT1A1 gene on chromosome 2 is the genetic basis of Gilbert's syndrome (UGT1A1*28). Read More

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Validation of rapid polymerase chain reaction-based detection of all length polymorphisms in the UGT 1A1 gene promoter.

Diagn Mol Pathol 2007 Mar;16(1):50-3

Molecular Pathology Laboratory, Department of Pathology, Montefiore Medical Center, Albert Einstien College of Medicine, Bronx, NY 10467, USA.

UDP glucuronosyltransferase (UGT) 1A1 gene promoter polymorphism can affect the expression level of the UGT 1A1 enzyme. The polymorphism consists of an insertion of a TA nucleotide sequence into a (TA)6TAA sequence in the gene promoter resulting in (TA)7TAA (UGT1A1*28). This results in a reduced UGT 1A1 expression with 70% less glucuronidation capacity for bilirubin and other UGT1A1 substrates. Read More

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