胆红素-尿苷二磷酸葡萄糖醛酸转移酶A1基因多态性在Gilbert综合征发病机制中的作用  

Role of UGT1A1 gene polymorphism in the pathogenesis of Gilbert syndrome

作　　者：宋金云[1] 孙梅[1] 李嘉妍 王建芳[1] 吴旭平[1] 

机构地区：[1]东南大学附属第二医院临床科研中心,南京210003

出　　处：《临床肝胆病杂志》2016年第3期609-612,共4页Journal of Clinical Hepatology

摘　　要：Gilbert综合征属于先天性非溶血性黄疸,是一种胆红素代谢障碍性疾病。胆红素-尿苷二磷酸葡萄糖醛酸转移酶(UGT)缺乏或活性降低是Gilbert综合征发病的重要原因。UGT1A1是UGT的同工酶,也是肝脏结合胆红素的关键酶。UGT1A1基因突变,导致UGT结构异常,从而导致胆红素结合功能减弱或丧失。介绍了UGT1A1及其基因多态性在Gilbert综合征发病机制及诊断价值等方面的进展。As a bilirubin metabolic disorder,Gilbert syndrome belongs to the category of congenital non- hemolytic jaundice. Deficiency or decrease in the activity of bilirubin- uridine diphosphate glucuronyltransferase（ UGT） is an important reason for the pathogenesis of Gilbert syndrome. UGT1A1,an isoenzyme of UGT,is a key enzyme to direct bilirubin in the liver. Mutations in UGT1A1 gene lead to the structural abnormality of UGT,and thus result in the decrease or loss of the ability of UGT to bind bilirubin. This article summarizes the research advances in the role of UGTA1 and its polymorphism in the pathogenesis and diagnosis of Gilbert syndrome.

关 键 词：吉尔伯特病 尿苷二磷酸葡糖醛酸 葡糖醛酸基转移酶 多态现象 遗传 综述 

分 类 号：R575[医药卫生—消化系统]