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

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

目的 探讨慢性乙型肝炎合并Gilbert综合征患者的临床特点及其基因突变位点分析.方法 对33例慢性乙型肝炎合并Gilbert综合征患者的肝脏生物化学指标、病理组织学特点及基因检测位点分析,对基因检测结果根据不同突变位点进行分析,数据分析应用x^2检验和t检验. 结果 33例患者Gilbert综合征特异性编码的UGT1A1基因检测显示突变位点集中表现在启动子上游PBREM-3263 （-3279）突变（23例）和启动子TATA盒TA插入突变（21例）,以及编码区外显子EXON1上的GGA-AGA Gly71Arg突变（18例）,3个常见位点突变之间差异无统计学意义（x^2=1.640,P＞ 0.05）.结论 慢性乙型肝炎合并Gilbert综合征患者诊断依靠传统方法仍比较困难,而基因检测为该疾病的诊断提供了更有利的帮助.

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 diseaserelated 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 phenobarbitalresponsive element module （PBREM） （-3279 mutation,23 cases）,in the promoter TATA box （a TA insertion mutation,21 cases）,and in the coding region ofexon 1 （a GGA-AGA Gly71Arg mutation,18 cases）; there was no statistical difference found for any of the three mutations among this patient population （x^2 =1.640,P 〉 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.