新生儿高胆红素血症(Neonatal Hyperbilirubinemia)是一种既普遍又复杂的新生儿疾病，绝大部分高胆红素血症的病因是有迹可循的，有一小部分是病因不明的。近年来，遗传因素在黄疸发病机制中的作用越来越受到重视，研究发现UGT1A1基因多态性与新生儿高胆红素血症的发生发展有着密切联系，UGT1A1基因多态性可导致UGT1A1酶生成减少或活性异常，最终导致高胆红素血症的发生。本文就新生儿高胆红素血症与UGT1A1基因的相关性作一综述。

Neonatal hyperbilirubinemia is a common and complex neonatal disease. Most of the causes of hyperbilirubinemia are traceable, but there are still a small number of unknown causes. In recent years, the role of genetic factors in the pathogenesis of jaundice has received more and more attention. Studies have found that UGT1A1 gene mutations are closely related to the occurrence and development of neonatal hyperbilirubinemia. UGT1A1 gene promoter region(non-coding sequence) mutations can lead to reduced enzyme production, and mutations in the coding region of the UGT1A1 gene can cause abnormal enzyme activity, or even reduce enzyme function, and ultimately lead to the occurrence of hyperbilirubinemia. This article reviews the relationship between neonatal hyperbilirubinemia and UGT1A1 gene.

内蒙古医科大学科技百万工程(联合)[YKD2016KJBW(LH)001]