UGT1A1基因多态性分析与新生儿高胆红素血症的关系

Gly71Arg mutation of the UGT1A1 gene in neonates with hyperbilirubinemia

目的探讨尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因Gly71Arg突变与新生儿高胆红素血症的关系。方法选择2009年6月至2011年4月深圳市第五人民医院出生的新生儿,分为高胆红素血症组(观察组)和对照组。采用突变特异性扩增系统法检测UGT1A1基因Gly71Arg突变。结果观察组168例,对照组157例,UGT1A1基因Gly71Arg突变中A等位基因频率分别为0.27和0.12,差异有统计学意义(χ2=22.58,P<0.05)。与携带G/G基因型新生儿相比,Gly71Arg突变(A/A+G/A)可增加新生儿高胆红素血症的发病风险(OR=2.71,95%CI1.68～4.38)。结论 UGT1A1基因Gly71Arg突变与新生儿高胆红素血症发生相关。

Objective In this study,we investigated the association between the Gly71Arg mutation in UDP-glucuronosyltransferase 1A1 gene（UGT1A1） and neonatal hyperbilirubinemia.Methods Neonates born from June 2009 to April 2011 in the Fifth People＇s Hospital of Shenzhen were assigned to hyperbilirubinemia group and control group.Amplification refractory mutation system（ARMS） was used to detect the UGT1A1 Gly71Arg mutation.Results Total of 168 hyperbilirubinemic neonates and 157 control neonates were enrolled to the study.The allelic frequency of ″A″ in Gly71Arg was 0.27 in hyperbilirubinemic neonates,which was significantly higher than 0.12 in the control group（χ2=22.58,P0.05）.The result revealed that the Gly71Arg mutant carriers（A/A＋G/A） were associated with an increased risk of neonatal hyperbilirubinemia comparing with the G/G allele carriers（OR=2.71,95%CI 1.68-4.38）.Conclusions The UGT1A1 Gly71Arg mutation was associated with neonatal hyperbilirubinemia in Chinese populations.