Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome

The American Journal of Gastroenterology
S Y HsiehY F Liaw

Abstract

Mutations in the promoter as well as in the coding region of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) have been found to be associated with Gilbert's syndrome. However, the genetic basis of Gilbert's syndrome in our population and correlation of these mutations to fasting serum bilirubin levels in patients with Gilbert's syndrome remain to be clarified. We applied polymerase chain reaction-based direct-sequencing assays to examine mutations in UGT1A1 gene in 20 unrelated Gilbert's patients and in a family with Gilbert's syndrome. We studied three mutations that were previously reported to be associated with Gilbert's syndrome (i.e., the TATAA-box mutation, Gly71Arg, and Pro229Gln) in 20 patients with Gilbert's syndrome. Of the patients, 16, five, and six were found to have the TATAA-box, Gly71Arg and Pro229Gln mutations, respectively. Seven patients had simultaneous mutations both in the TATAA box and in the coding region. Of note, all six patients with Pro229Gln also had the TATAA-box mutation. Localization of Pro229Gln on the allele containing the TATAA-box mutation was demonstrated in a family with Gilbert's syndrome. The patients simultaneously heterozygous for both the TATAA-box mutation and Gly71Arg usually...Continue Reading

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Citations

Aug 12, 2004·Journal of Gastroenterology and Hepatology·Toshinori Kamisako
Mar 20, 2010·Pharmacogenomics·Yutaka Fujiwara, Hironobu Minami
May 3, 2005·Pharmacogenetics and Genomics·Ching-Shan HuangKung-Sheng Tang
Jun 21, 2005·Journal of Biomedical Science·Ching-Shan Huang
Apr 25, 2019·The Kaohsiung Journal of Medical Sciences·May-Jen HuangChing-Shan Huang
Dec 18, 2010·Clinical Chemistry·Brian H ShirtsBrian R Jackson
Oct 26, 2005·Clinical Chemistry·James R Harraway, Peter M George
Jan 23, 2015·Liver International : Official Journal of the International Association for the Study of the Liver·Tzu-Yue ShiuTsai-Yuan Hsieh
Feb 1, 2005·World Journal of Gastroenterology : WJG·May-Jen HuangChing-Shan Huang

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