Clinical features and gene mutation profiles of patients with chronic hepatitis B and Gilbert's syndrome.
- VernacularTitle:慢性乙型肝炎合并Gilbert综合征患者33例临床及其基因突变分析
- Author:
Huibin NING
1
;
Kuan LI
;
Zhongshan MAO
;
Junping LIU
;
Erhui XIAO
;
Yi KANG
;
Jia SHANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Exons; Gilbert Disease; Glucuronosyltransferase; Hepatitis B, Chronic; Humans; Mutagenesis, Insertional; Mutation; Polymerase Chain Reaction; Promoter Regions, Genetic; TATA Box
- From: Chinese Journal of Hepatology 2015;23(1):13-16
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical features and gene mutation profiles of patients with chronic hepatitis B (CHB) and Gilbert's syndrome.
METHODSThirty-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.
RESULTSSequencing 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).
CONCLUSIONThe 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.
