尿苷二磷酸葡萄糖醛酸基转移酶基因突变的研究现状

New concept on UDP-glucuronosyltransferase gene mutation

尿苷二磷酸葡萄糖醛酸基转移酶(UGT)基因突变可引起先天性高非结合胆红素血症。现就UGT基因突变研究现状进行综述,包括UGT基因的定位及结构,UGT突变与Crigler-Najjar综合征Ⅰ(CNⅠ)、Crigler-Najjar综合征Ⅱ(CNⅡ)和Gilbert综合征(GS)以及UGT基因治疗研究进展等。UGT基因突变研究,将有助于先天性高非结合胆红素血症的临床诊断和治疗。

Uridinediphosphoglucuronate-glucuronosyltransferase （UGT） gene mutation is one of the factors causing unconjugated hyperbilirubinemia. This paper reviews the current concept and new advances on UGT gene mutation, including UGT gene location and structure, mutations; its association with Crigler-Najjar syndrome type Ⅰ, Crigler-Najjar syndrome type Ⅱ and Gilbert syndrome ; and UGT gene therapy. New concepts related to UGT gene mutation may improve diagnosis and treatment of unconjugated hyperbilirubinemia.