An Analysis of BLVRA Gene Mutation in Neonatal Hyperbilirubinemia of Unknown Origin
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.
Hyperbilirubinemia of unknown originA newbornBLVRA geneGene mutationGenotype
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