UGT1A1基因的分子流行病学及其在Gilbert综合征诊断中的价值  

Molecular epidemiology of UGT1A1 gene and its diagnostic value in Gilbert’s syndrome

作　　者：张梦 齐俊英[1] Zhang Meng;Qi Junying(Department of Infectious Diseases,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：《国际流行病学传染病学杂志》2019年第5期407-410,共4页International Journal of Epidemiology and Infectious Disease

摘　　要：Gilbert综合征(GS)是一种发病率较高的遗传性高胆红素血症,以长期间歇性轻度非结合胆红素升高为主,通常不伴随溶血或肝脏结构性病变。GS的发病和病理生理机制有待深入探究,其诊断金标准尚未建立,临床上常结合症状、血清学检测、肝穿活检、各种激发或诱导试验来确诊。随着分子生物学的发展,研究发现UGT1A1的启动子区TATA盒突变、外显子区错义突变以及苯巴比妥反应增强子区c.-3279T>G(UGT1A1*60)突变与GS的发病密切相关。基于其安全、快速、准确性高等优点,目前临床已广泛应用UGT1A1基因检测的方法来协助诊断GS。为加深对GS的认识及明确UGT1A1基因分子流行病学在Gilbert综合征中的诊断价值及意义,现对其近年来的研究进展进行概述。Gilbert’s syndrome (GS) is a kind of hereditary hyperbilirubinemia with a high incidence. GS patients show long-term intermittent mild unconjugated bilirubin increase, usually without hemolysis or liver structural lesions. The pathogenesis and pathophysiology of GS remain to be explored, and the diagnostic golden standard has not yet been established. Clinically, GS is confirmed by symptoms combined with serological tests, liver biopsy, stimulations or induction tests. With the development of molecular biology, studies show that the promoter region of UGT1A1 TATA box mutation, exon region missense mutation and phenobarbital reaction enhancer region c.-3279T>G (UGT1A1*60) mutation are closely related with the incidence of GS. UGT1A1 gene detection is widely used in clinical according to its safety, speed and high accuracy. We aim to extend our understanding of GS and utility of the UGT1A1 gene molecular epidemiology in GS by reviewing recent updates.

关 键 词：吉尔伯特病 UGT1A1 高胆红素血症 

分 类 号：R5[医药卫生—内科学]