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目的了解我国北方地区新生儿高胆红素血症的形成与尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)和有机阴离子转运载体2(OATP2)基因突变的关系。方法应用聚合酶链反应-限制性片段长度多态性方法测定新生儿重症高胆红素血症、高胆红素血症及非高胆红素血症患儿的UGT1A1基因211位点(Gly71Arg)突变及OATP2基因388位点(Asn130Asp)突变,并检验各组基因型分布及等位基因频率差异。应用Logistic回归模型,分析两种基因突变对高胆红素血症的影响。结果重症高胆红素血症组68例,高胆红素血症组95例,对照组63例。重症高胆红素血症组和高胆红素血症组UGT1A1基因211位点突变率和OATP2基因388位点突变率均高于对照组(36.8%、26.8%比14.3%,25.7%、25.8%比9.5%,P均<0.05);重症高胆红素血症组和高胆红素血症组差异无统计学意义(P>0.05)。Logistic回归分析显示,UGT1A1基因211位点突变和OATP2基因388位点突变是新生儿重症高胆红素血症的危险因素,OR值(95%CI)分别为5.052(2.383～10.713)和2.692(1.236～5.862)(P=0.001和0.013)。结论携带UGT1A1基因211位点突变及OATP2基因388位点突变与新生儿高胆红素血症的形成有一定关系。
Objective To investigate the relationship between the formation of neonatal hyperbilirubinemia and the mutation of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) and organic anion transporter 2 (OATP2) genes in northern China. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the UGT1A1 gene 211 locus in neonates with severe hyperbilirubinemia, hyperbilirubinemia and non-hyperbilirubinemia (Gly71Arg ) Mutation and OATP2 gene 388 site (Asn130Asp) mutation, and test the genotype distribution and allele frequency differences. Logistic regression model was used to analyze the effect of two gene mutations on hyperbilirubinemia. Results 68 cases of severe hyperbilirubinemia group, 95 cases of hyperbilirubinemia group, 63 cases of control group. The mutation rate of UGT1A1 gene 211 locus and OATP2 gene 388 locus in severe hyperbilirubinemia group and hyperbilirubinemia group were higher than those in control group (36.8%, 26.8% vs. 14.3%, 25.7%, 25.8 % Vs 9.5% respectively, P <0.05). There was no significant difference between severe hyperbilirubinemia group and hyperbilirubinemia group (P> 0.05). Logistic regression analysis showed that mutation of 211 site of UGT1A1 gene and mutation of 388 site of OATP2 gene were risk factors of neonatal severe hyperbilirubinemia with OR (95% CI) 5.052 (2.383-10.713) and 2.692 1.236 ~ 5.862) (P = 0.001 and 0.013). Conclusion The mutation of site 211 carrying UGT1A1 gene and mutation of site 388 of OATP2 gene are related to the formation of neonatal hyperbilirubinemia.