Correlation between UGT1A1 Polymorphism and Neonatal Hyperbilirubinemia of Neonates in Wuhan

摘要

This study attempts to discuss the correlation between UGT1A1~*28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71 Arg gene polymorphism with neonatal hyperbilirubinemia of neonates in Wuhan. A total of 168 neonates were divided into the hyperbilirubinemia group(case group, n=108) and healthy neonates group(control group, n=60). Their DNA was obtained through blood extraction. The gene exon mutation of UGT1A1 was detected by Sanger sequencing, which revealed the relationship between UGT1A1~*28 and Gly71 Arg polymorphism with neonatal hyperbilirubinemia of neonates. The results showed that:(1) The frequency of UGT1A1~*28 allele mutation in the case group and the control group was 9.3% and 10% respectively, with the difference being not significant between the two groups(P>0.05).(2) The frequency of Gly71 Arg allele mutation in the case group and the control group was 35.1% and 21.7% respectively, with the difference being significant between the two groups(P<0.01).(3) The serum bilirubin level of Gly71 Arg mutant homozygous and heterozygous subgroups(n=66) in the case group was 302.7±31.4 μmol/L, which was significantly higher than 267.3±28.5 μmol/L of the wild subgroup(n=42)(P<0.01). It was suggested that the occurrence of neonatal hyperbilirubinemia of neonates in Wuhan was not associated with UGT1A1~*28 gene polymorphism, but closely with the Gly71 Arg gene polymorphism. Meanwhile, the Arg allele mutation was related to the degree of jaundice.