objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

Objective(s): Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome. In view of the genetic heterogeneity and involvement of large numbers of the disease causing mutations, the application of polymorphic markers in the UGTA1 gene could be useful in molecular diagnosis of the disease. Materials and Methods: In the...

to determine the association between polymorphism of ugt1a1 gene and idiopathic hyperbilirubinemia in iranian neonates. fifty neonates with idiopathic hyperbilirubinemia and serum total bilirubin (stb) more that 15mg/dl and 50 neonates with idiopathic hyperbilirubinemia and serum total bilirubin (stb) less than 15mg/dl enrolled in this study. thymine-adenine (ta)  repeats in the promoter region...

AIMS To analyze the distribution of uridine diphosphate glucuronosyltransferase (UGT)1A1 gene polymorphisms in Chinese patients with extensive-stage small-cell lung cancer (E-SCLC), and to evaluate correlations between the UGT1A1 gene polymorphisms and toxicity, and efficacy of irinotecan (CPT-11) based regimen in the patients with E-SCLC. METHODS The study analyzed the distribution of UGT1A1...

OBJECTIVE To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. STUDY DESIGN The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included ...

Congenital hereditary non-conjugate hyperbilirubinemias include Gilbert’s syndrome, Crigler-Najjar type 1 and 2 syndromes (or Arias’ disease). They are caused by a deficiency of the enzyme - bilirubinuridine-5’-diphosphate glucuronosyltransferase (UGT1A1), involved in glucuronization bilirubin. The is due to mutations UGT1A1 gene, which provides activity. Complete or almost complete loss (Crigl...

Jaundice or hyperbilirubinaemia is a common complication of sepsis. UGT1A1 (UDP-glucuronosyltransferase 1A1) is a critical gene for bilirubin metabolism and irinotecan detoxification. However, the molecular pathogenesis of hyperbilirubinaemia during inflammation needs to be further clarified. Human hepatic UGT1A1 expression was analysed by RT (reverse transcription)-PCR, qRT-PCR (quantitative r...

conclusions the present findings showed that the ta7/7 promoter of ugt1a1 gene accounted for a considerable number of gilbert’s syndrome cases (11.3%). the studied variations had a significant effect on creatine phosphokinase and serum total bilirubin levels. results about 78.9% of the studied subjects had normal homozygous genotypes, and 21.1% were heterozygous for the gly71arg variation. in t...

PURPOSE The primary aim of this research was to investigate the association between uridine diphosphate glucuronosyltransferase (UGT)1A1 gene polymorphisms and the toxicities of irinotecan-based regimens in Chinese patients with metastatic colorectal cancer. METHODS The study analyzed the distribution of UGT1A1*28/*6 gene polymorphisms by polymerase chain reaction amplification and pyrosequen...

PURPOSE Irinotecan is used in the first-line treatment of metastatic colorectal cancer. The UGT1A1-metabolizing enzyme, expressed in liver and colon, is primarily involved in the inactivation of its active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). Herein, we explored the role of DNA methylation in the silencing of UGT1A1 gene expression in colon cancer and its influence on cellular SN-...