ABSTRACT
This study attempts to discuss the correlation between UGT1A1*28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71Arg 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 UGT 1A 1*28 and Gly71Arg polymorphism with neonatal hyperbilirubinemia of neonates.The results showed that:(1) The frequency of UGT1Al*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 Gly71Arg 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 Gly71Arg 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 UGT 1A1*28 gene polymorphism,but closely with the Gly71Arg gene polymorphism.Meanwhile,the Arg allele mutation was related to the degree of jaundice.