重庆地区足月新生儿高未结合胆红素血症与UGT1A1基因多态性研究  

UGT1A1 gene polymorphism among unconjugated hyperbilirubinemia full-term neonates in Chongqing area

作　　者：王小琴[1] 王永明[1] 华子瑜[1] 

机构地区：[1]重庆医科大学附属儿童医院新生儿诊治中心,重庆400014

出　　处：《重庆医科大学学报》2016年第1期85-89,共5页Journal of Chongqing Medical University

基　　金：重庆市卫生局面上资助项目(编号:2012-2-101)

摘　　要：目的：探讨重庆地区足月新生儿高未结合胆红素血症与UGT1A1基因多态性的关系。方法 ：采用回顾性研究,纳入330例高未结合胆红素血症足月新生儿,根据病因明确及换血与否分别分组为病因明确组,病因不明组;换血组、非换血组。提取患儿血DNA,PCR扩增包括UGT1A1启动子区域、编码区第1外显子及部分内含子区域并测序,运用二分类变量单因素logistic回归分析基因多态性与新生儿高未结合胆红素血症的关系。结果：病因明确210例,病因不明120例;换血组213例,非换血组117例。211G〉A总突变率、纯合突变率、杂合突变率在病因明确组分别为38.6%、6.2%、32.4%;病因不明组分别为49.2%、11.7%、37.5%,基因突变率明显高于病因明确组（P〈0.001）,logistic回归分析示UGT1A1基因211G〉A突变对病因不明足月新生儿高未结合胆红素血症及换血组高未结合胆红素血症发生的OR值（95%CI）分别为1.54（3.083-8.108）和2.64（1.278-4.508）。结论：重庆地区足月新生儿病因不明高未结合胆红素症可能与UGT1A1基因211G〉A突变相关。Objective：To explore the UGT1A1 gene polymorphism among unconjugated hyperbilirubinemia full-term neonates in Chongqing area. Methods：The study was a reviewing trial including 330 unconjugated hyperbilirubinemia neonates. According to the jaundice etiology,the unconjugated hyperbilirubinemia babies were divided to two groups：210 with clear causes of jaundice and 120 without. Meanwhile,the severe jaundice cases were divided into two groups：213 cases undergoing exchange transfusion and 117 cases without transfusion. The UGT1A1 polymorphisms were compared between the groups. Logistic regression models were employed to an-alyze the effects of UGT1A1 polymorphisms on full-term neonatal unconjugated hyperbilirubinemia. Results：For the group of unclearcause jaundice,the total mutation incidence,homozygous mutation rate and heterozygous mutation rate of 211G〉A were 49.2%,11.7%and 37.5%,respectively,significantly higher than those of 38.6%,6.2% and 32.4% in clear-cause group（P〈0.001）. Logistic regression indicated,the OR and 95% CI values of 211G〉A mutation associated with the development of unconjugated hyperbilirubinemia and severe jaundice in full-term neonates were 1.54（3.083-8.108）and 2.64（1.278-4.508）,respectively. Conclusion：211G〉A mutation of UGT1A1 maybe involved in the development of etiology unclear full-term neonatal unconjugated hyperbilirubinemia in Chongqing area.

关 键 词：足月新生儿 高未结合胆红素血症 UGT1A1基因多态性 

分 类 号：R722.17[医药卫生—儿科]