新生儿不明原因高胆红素血症BLVRA基因突变分析

An Analysis of BLVRA Gene Mutation in Neonatal Hyperbilirubinemia of Unknown Origin

目的探讨分析新生儿不明原因高胆红素血症胆绿素还原酶A(biliverdin reductase A,BLVRA)基因突变情况。方法选取2021年7月至2023年7月我院出生并诊断为不明原高胆红素血症新生儿52例为观察组,并选取同期50例健康新生儿作为对照组。新生儿分娩3d后,取其血清样本检测BLVRA基因突变情况,分析BLVRA基因rs699512位点突变与新生儿不明原因高胆红素血症的关系。结果观察组新生儿分娩3d后总胆红素水平为298.65±45.72μmol/L;对照组总胆红素水平为166.82±39.57μmol/L;观察组新生儿分娩3d后总胆红素水平高于对照组(P<0.05)。观察组BLVRA基因rs699512位点AA基因型、等位基因A频率分布高于对照组(P<0.05)。AA基因型新生儿血清总胆红素水平低于AG基因型和GG基因型患儿,且组间比较差异具有统计学意义(P<0.05);并且,观察组不同基因型患儿分娩3d后血清总胆红素水平均高于对照组(P<0.05)。AA基因型总胆红素水平≥332μmol/L的发生率高于AG基因型和GG基因型(P<0.05)。结论BLVRA基因突变可引起新生儿不明原因高胆红素血症患儿血清总胆红素水平升高,rs699512位点AA基因型多态性可能参与新生儿不明原因高胆红素血症发病过程。

Objective To investigate the mutation of biliverdin reductase A(BLVRA)gene in neonatal hyperbilirubinemia of unknown origin.Methods Fifty-two neonates born in our hospital and diagnosed with unexplained hyperbilirubinemia from July,2021 to July,2023 were selected as the observation group,while 50 healthy neonates during the same period were selected as the control group.Serum samples were obtained to detect BLVRA gene mutation 3 days after delivery.The relationship between rs699512 mutation of BLVRA gene and neonatal hyperbilirubinemia of unknown origin was also analyzed.Results The total bilirubin level in the observation group was 298.65±45.72μmol/L 3 days after delivery;The total bilirubin level in the control group was 166.82±39.57μmol/L;The level of total bilirubin in the observation group was significantly higher than that in the control group(P<0.05).The frequency distribution of genotype AA and allele A at rs699512 of BLVRA gene in the observation group was significantly higher than that in control group(P<0.05).The serum total bilirubin level of AA genotype neonates was significantly lower than that of AG genotype and GG genotype neonates(P<0.05).In addition,the serum total bilirubin level of different genotypes in the observation group was significantly higher than that in the control group 3 days after delivery(P<0.05).The incidence of total bilirubin level≥332μmol/L in AA genotype was significantly higher than that in AG genotype and GG genotype(P<0.05).Conclusion BLVRA gene mutation can cause higher serum total bilirubin level in neonates with unknown hyperbilirubinemia,and rs699512 AA genotype polymorphism could be involved in the pathogenesis of unknown neonatal hyperbilirubinemia.