[Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].

Abstract

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.

• Authors: Shun-chang Sun, Zhi-ming Zhou, Qun-rong Chen, Yun-sheng Peng, Chuan-qing Tu
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 30 Issue 4 Pg. 425-8 (Aug 2013) ISSN: 1003-9406 [Print] China
• PMID: 23926009 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase
• Bilirubin

Topics

• Adolescent
• Adult
• Aged
• Base Sequence
• Bilirubin (blood)
• Case-Control Studies
• DNA Mutational Analysis
• Female
• Glucuronosyltransferase (genetics, metabolism)
• Heterozygote
• Homozygote
• Humans
• Hyperbilirubinemia (enzymology, genetics, metabolism)
• Male
• Middle Aged
• Molecular Sequence Data
• Young Adult