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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 To investigate the relationship between Gly71Arg mutation of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene and neonatal hyperbilirubinemia. Methods Newborns born in Shenzhen No.5 People’s Hospital from June 2009 to April 2011 were divided into hyperbilirubinemia group (observation group) and control group. Gly71Arg mutation of UGT1A1 gene was detected by mutation-specific amplification system. Results There were 168 cases in the observation group and 157 cases in the control group. The frequencies of allele A in Gly71Arg of UGT1A1 gene were 0.27 and 0.12 respectively, with significant difference (χ2 = 22.58, P <0.05). Gly71Arg mutation (A / A + G / A) increased the incidence of neonatal hyperbilirubinemia compared with those carrying G / G genotype (OR = 2.71, 95% CI 1.68-4.38). Conclusions The Gly71Arg mutation of UGT1A1 gene is associated with neonatal hyperbilirubinemia.