[Clinical features and gene mutation profiles of patients with chronic hepatitis B and Gilbert's syndrome].

Abstract

OBJECTIVE:

To explore the clinical features and gene mutation profiles of patients with chronic hepatitis B (CHB) and Gilbert's syndrome.

METHODS:

Thirty-three patients with CHB and Gilbert's syndrome were enrolled in the study. Serum markers of liver function and histological features of disease-related liver injury were assessed by standard methods. Gene mutations were detected by PCR and direct DNA sequencing.Statistical analysis was carried out with the chi-square and t tests.

RESULTS:

Sequencing of the Gilbert syndrome-associated gene, UGT 1A 1, revealed mutations in the upstream promoter phenobarbital-responsive element module (PBREM) (-3279 mutation, 23 cases), in the promoter TATA box (a TA insertion mutation, 21 cases), and in the coding region of exon 1 (a GGA-AGA Gly71Arg mutation, 18 cases); there was no statistical difference found for any of the three mutations among this patient population (x2 =1.640, P more than 0.05).

CONCLUSION:

The traditional methods of diagnosis for patients with CHB and Gilbert's syndrome remain a technical challenge in the clinic, and gene detection may represent a more favorable method for diagnosing this patient population.

• Authors: Huibin Ning, Kuan Li, Zhongshan Mao, Junping Liu, Erhui Xiao, Yi Kang, Jia Shang
• Journal: Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology (Zhonghua Gan Zang Bing Za Zhi) Vol. 23 Issue 1 Pg. 13-6 (Jan 2015) ISSN: 1007-3418 [Print] China
• PMID: 25751380 (Publication Type: Journal Article)

Chemical References

• Glucuronosyltransferase

Topics

• Base Sequence
• Exons
• Gilbert Disease
• Glucuronosyltransferase
• Hepatitis B, Chronic
• Humans
• Mutagenesis, Insertional
• Mutation
• Polymerase Chain Reaction
• Promoter Regions, Genetic
• TATA Box