摘要
尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因突变可影响UGT1A1的表达及其酶活性,使胆红素代谢减慢,导致高未结合胆红素血症。随着分子生物学技术的发展,越来越多的研究通过分析UGT1A1基因多态性的表达情况及酶活性来明确这些多态性的致病机制。现就UGT1A1基因多态性的表达研究进展进行综述。
The uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene mutation can affect the expression of UGT1A1 gene and enzyme activity, and then reduce bilirubin metabolism leading to unconjugated hyperbi-lirubinemia.With the development of molecular biotechnology, more and more studies are trying to identify the pathogenesis of these polymorphisms by analyzing the expression and enzyme activity of UGT1A1 gene polymorphisms.Now, the progresses in the study of the expression of UGT1A1 gene polymorphism were reviewed.
作者
陈虹
钟丹妮
Chen Hong;Zhong Danni(Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2019年第5期388-391,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金(81460241).
