UGT1A1基因检测在Gilbert综合征中的诊断价值分析  

Analysis of diagnostic value of UGT1A1 gene detection in Gilbert syndrome

作　　者：张梦 李维娜 陈广[1] 徐欣 齐俊英[1] Zhang Meng;Li Weina;Chen Guang;Xu Xin;Qi Junying(Department and Institute of Infectious Disease,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院感染科,武汉430030

出　　处：《中华肝脏病杂志》2021年第2期143-149,共7页Chinese Journal of Hepatology

摘　　要：目的探讨Gilbert综合征(GS)的诊断方法及UGT1A1基因多态性分布与血清胆红素间的关系。方法回顾性分析2013年1月至2018年11月间确诊的115例GS患者临床资料,采用χ2检验、Fisher确切概率法、t检验、非参数检验方法进行数据分析。结果115例GS患者,年龄(36.89±12.77)岁,血清总胆红素水平(44.01±18.78)μmol/L。单位点突变以UGT1A1*28/*28(21,18.3%)、UGT1A1*1/*28(17,14.8%)、UGT1A1*1/*6(17,14.8%)多见;多位点突变以UGT1A1*1/*28+*1/*6(26,22.6%)、UGT1A1*28/*28+*1/*27(5,4.3%)、UGT1A1*1/*28+*1/*6+*1/*27(5,4.3%)多见。在110例Gibert综合征合并非溶血性疾病患者中,通过两两比较发现UGT1A1*28/*28突变的患者总胆红素水平显著高于UGT1A1*6/*6及UGT1A1*1/*28+*1/*6突变患者的总胆红素水平(P均<0.05)。并且随着UGT1A1*28分布的增加,血清总胆红素水平逐渐升高(P=0.028),而UGT1A1*6则与之相反(P=0.021)。GS组(67例)与GS合并病毒性肝炎组(32例)的基因分布以及胆红素水平差异无统计学意义(P值均>0.05)。结论UGT1A1基因测序检测是协助GS诊断的简便安全、特异性及敏感度高的有效手段,可降低临床黄疸误诊误治,从而减轻患者心理负担,节约有限医疗资源,值得在临床上推广使用。Objective To investigate the diagnosis method of Gilbert syndrome(GS)and the relationship between UGT1A1 gene polymorphism distribution with serum bilirubin.Methods Clinical data of 115 GS cases diagnosed in our hospital from January 2013 to November 2018 were retrospectively analyzed.Chi-square test,Fisher’s exact probability method,t-test,and non-parametric test were used for data analysis.Results 115 cases with GS had an average age of(36.89±12.77)years and an average serum total bilirubin level of(44.01±18.78)μmol/L.UGT1A1*28/*28(21,18.3%),UGT1A1*1/*28(17,14.8%),and UGT1A1*1/*6(17,14.8%)were the most common single-site mutations.UGT1A1*1/*28+*1/*6(26,22.6%),UGT1A1*28/*28+*1/*27(5,4.3%)and UGT1A1*1/*28+*1/*6+*1/*27(5,4.3%)were the most common multiple-site mutations.Among 110 cases with Gilbert syndrome combined with non-hemolytic diseases,pairwise comparisons showed that the total bilirubin levels of patients with UGT1A1*28/*28 mutations were significantly higher than UGT1A1*6/*6 and UGT1A1*1/*28+*1/*6 mutation(P<0.05).Additionally,with the increase of UGT1A1*28 distribution,the serum total bilirubin level had gradually increased(P=0.028),but UGT1A1*6 was opposite(P=0.021).There were no significant differences in gene distribution and bilirubin level between GS group(67 cases)and GS combined with viral hepatitis group(32 cases)(P>0.05).Conclusion UGT1A1 gene sequencing detection is a simple,safe,specific and sensitive effective method to assist GS diagnosis.It can reduce the misdiagnosis and mistreatment of clinical jaundice,thus reducing the patients’psychological burden and saving the limited medical resources.It is worthy of clinical application.

关 键 词：吉尔伯特综合征 UGT1A1基因多态性 高胆红素血症 

分 类 号：R596.1[医药卫生—内科学]