Objective: To analyze potential mutations of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene in patients with unconjugated hyperbilirubinemia, and to explore the correlation between the mutations and total serum bilirubin levels.
Methods: Genomic DNA was extracted from peripheral blood samples of patients. Coding sequence and promoter region of the UGT1A1 gene were amplified. Mutations were identified through DNA sequencing.
Results: Mutations of the UGT1A1 gene were found in 46 out of 61 patients with unconjugated hyperbilirubinemia. Five types of mutations were detected, with a decreasing order of 211G>A, TA insertion in the TATAA promoter element, 686C>A, 1091C>T and 1352C>T. Compared with those carrying a single homozygous mutation or compound heterozygous mutations, total serum bilirubin was higher in those carrying a homozygous mutation in combination with other heterozygous mutations (P< 0.05). Based on the UGT1A1 gene mutations and level of total serum bilirubin, 44 patients were diagnosed with Gilbert syndrome, and 2 were diagnosed with Crigler-Najjar syndrome type 2.
Conclusion: The level of total serum bilirubin is correlated with the number of UGT1A1 gene mutations as well as their heterozygous or homozygous status.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2013.04.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pharmacogenetics of colorectal cancer in a third-level hospital in Valencia.
Adv Lab Med
December 2024
Gene Therapy and Pharmacogenomics Research Group, Department of Pharmacology, Universitat de València and IIS La Fe, Valencia, Spain.
Objectives: Genetic variants with associated pharmacokinetic and pharmacodynamic effects have an impact on the development of adverse drug reactions and survival of patients with colorectal cancer.
Methods: A selection of genetic variants was performed according to the established chemotherapy and the pharmacogenetic databases. Genotyping was performed using MassArray technology (Agena Bioscience).
Genetic variation on dolutegravir pharmacokinetics and relation to safety and efficacy outcomes: a systematic review.
Pharmacogenomics
December 2024
Department of Pharmacy, Radboudumc Research Institute for medical Innovation (RIMI), Radboud University Medical Center, Nijmegen, The Netherlands.
Background: Dolutegravir (DTG) is an antiviral agent used for the treatment of HIV, however, there is uncertainty over the influence of genetic variation on DTG exposure, and whether it has clinical implications for the efficacy or toxicity in different populations. This systematic review aims to create an overview of the impact of pharmacogenomics (PGx) on DTG exposure, efficacy, and toxicity.
Methods: Publications up to 14 November 2023 were searched and articles were selected on the following criteria: original research articles providing data on people with HIV, data on PGx and either PK or PD or both PD and PGx.
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
World J Clin Pediatr
December 2024
Department of Neonatal, The Second Affiliated Hospital of Xiamen Medical College, Xiamen 361021, Fujian Province, China.
Article Synopsis
- Genetic factors are important in neonatal hyperbilirubinemia (NH) linked to genetic disorders, with the study focusing on identifying mutation characteristics.
- A retrospective study involved 105 newborns with NH due to genetic conditions, using a 24-gene panel for sequencing and statistical analysis.
- Results highlighted 17 frequently mutated genes, with specific mutations identified in neonatal Gilbert syndrome and Wilson's disease, indicating that certain mutations correlate with higher risks of NH in newborns.
Repeated dosing of AAV-mediated liver gene therapy in juvenile rat and mouse models of Crigler-Najjar syndrome type I.
Mol Ther Methods Clin Dev
December 2024
International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
View Article and Find Full Text PDFAllele frequency of genetic variations related to the gene-drug pair in a group of Iranian population.
J Diabetes Metab Disord
December 2024
Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Objectives: The efficacy and safety of drug treatments vary widely due to genetic variations. Pharmacogenomics investigates the impact of genetic variations on patient drug response. This research investigates the frequency of genetic variations in the Iranian population, comparing them with global data to provide insights into the pharmacogenomic approach in the Iranian population.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!