5 results match your criteria ugt1a1*28 ugt1a1*36

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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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Impact of UGT1A1 polymorphisms on Raltegravir and its glucuronide plasma concentrations in a cohort of HIV-1 infected patients.

Sci Rep 2018 05 9;8(1):7359. Epub 2018 May 9.

AIDS Reference center, Cliniques Universitaires Saint-Luc, 1200, Brussels, Belgium.

The aim of this study was to evaluate the effect of UGT1A1 polymorphisms on Raltegravir (RAL) and its metabolite RAL-glucuronide trough plasma concentrations ([RAL]plasma and [RAL-glu]plasma) and on the metabolic ratio (MR): [RAL-glu]plasma/[RAL]plasma. UGT1A1 genotyping was performed on 96 patients. 44% (n = 42) were homozygous UGT1A1*1/*1 while 50% (n = 48) and 6% (n = 6) were UGT1A1*28 and UGT1A1*36 carriers, respectively. Read More

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Distribution of selected gene polymorphisms of UGT1A1 in a Saudi population.

Arch Med Sci 2013 Aug 20;9(4):731-8. Epub 2013 Aug 20.

Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia ; Biomarkers Research Program, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.

Introduction: Glucuronidation is an important phase II pathway responsible for the metabolism of many endogenous substances and drugs to less toxic metabolites, which undergo renal excretion. The aim of the current work was to evaluate genotype and allele frequencies of certain UDP-glucuronosyltransferase 1A1 (UGT1A1) variants in an Arab population.

Material And Methods: Genomic DNA was isolated from 192 healthy unrelated Saudi males of various geographic regions and genotyping of UGT1A1*6, *27, *36, *28, *37, and *60 was carried out using polymerase chain reaction (PCR) amplification followed by direct sequencing. Read More

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UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal).

Mol Diagn Ther 2009 ;13(4):261-8

Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, São Miguel Island, Azores, Portugal.

Background: Glucuronidation reactions, catalyzed by uridine-diphosphate glucuronosyltransferase (UGT) enzymes, constitute a detoxification process that adds glucuronic acid to endogenous and exogenous compounds, aiding their excretion. UGT1A proteins have been implicated as risk factors for both the development of cancer and adverse drug effects.

Methods: Here, we assess the genome of 469 individuals from São Miguel Island (Azores, Portugal) in order to determine the frequencies of polymorphisms and haplotypes in UGT1A1, UGT1A6, and UGT1A7, the co-occurrence of reduced enzyme activity UGT1A variants related to irinotecan toxicity, and to calculate the extent of linkage disequilibrium (LD) in the genomic region encompassing these genes. Read More

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January 2010

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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