Study of Gilbert's Syndrome-Associated UGT1A1 Polymorphism in Jaundiced Neonates of ABO Incompatibility Hemolysis Disease

Study of Gilbert's Syndrome-Associated UGT1A1 Polymorphism in Jaundiced Neonates of ABO Incompatibility Hemolysis Disease
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DOI:
10.1055/s-0039-1688816
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发表时间:
2020-05-01
影响因子:
2
通讯作者:
Chen, Lihua
Chen, Lihua
中科院分区:
医学4区
文献类型:
--
作者:
Yu, Yingfang;Du, Lizhong;Chen, Lihua

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目的探讨UGT 1A 1基因多态性与ABO血型不合新生儿黄疸的关系。研究设计ABO血型不合新生儿溶血病(HDN)足月儿65例为研究组,非ABO血型不合HDN足月儿82例为对照组。我们检测了ABO HDN和非ABO HDN新生儿的UGT 1A 1基因突变。我们比较了ABO HDN和非ABO HDN中有和无UGT 1A 1突变的新生儿之间高胆红素血症的发生率,以确定ABO HDN新生儿黄疸与UGT 1A 1基因多态性之间的关系。结果ABO HDN患者Gly 71 Arg纯合子组与非突变组血清胆红素水平差异有统计学意义(p < 0.05)。当高胆红素血症定义为血清胆红素浓度>342 μ mol/L时,ABO HDN组中UGT 1A 1和非UGT 1A 1突变患者的高胆红素血症发生率有显著差异(p < 0.05)。结论Gly 71 Arg纯合子与ABO HDN患者高胆红素血症的发生有关。
Objective This study aimed to assess the probable relationship between icter in neonates with ABO incompatibility hemolysis and UGT1A1 gene polymorphism.Study Design There were 65 ABO hemolytic disease of the newborn (HDN) neonates of full term in the study group and 82 non-ABO HDN neonates of full term in the compared group. We tested the UGT1A1 gene mutation of neonates of ABO HDN and non-ABO HDN. We compared the incidence of hyperbilirubinemia between neonates with and without UGT1A1 mutations in the ABO HDN and non-ABO HDN, to determine the relationship between icter in neonates with ABO HDN and UGT1A1 gene polymorphism. SPSS 13.0 were used to analyze those two groups' data.Results There was statistically significant difference of the serum bilirubin level between the Gly71Arg homozygous and no mutation group in the ABO HDN patients ( p < 0.05). When hyperbilirubinemia was defined as serum bilirubin concentration >342 mu mol/L, the incidence of hyperbilirubinemia between patients of UGT1A1 and non-UGT1A1 mutations in the ABO HDN group was significantly different ( p < 0.05). But in the non-ABO HDN group, no significant difference was found.Conclusion Individuals with Gly71Arg homozygous contributed to their hyperbilirubinemia in ABO HDN patients.