Association of Gly71Arg Mutation in Gene of Bilirubin Uridine 5'-Diphosphate-Glucuronosyl Transferase and Neonatal Jaundice / 实用儿科临床杂志

ABSTRACT

Objective To explore the association of Gly71Arg mutation in gene of bilirubin uridine 5'-diphosphate-glucuronosyltransferase(UGT1A1)and neonatal jaundice in Beijing city Han population.Methods The genotypes and alleles of the Gly71 Arg polymorphism for UGT1A1 gene were identified by polymerase chain reaction-restricted fragment length polymorphism assay in infants of Beijing city Han population of China,including 96 infants with neonatal jaundice[serum bilirubin(307.06?38.5)?mol/L,indirect bilirubin(292.9?35.9)?mol/L] and 101 healthy control infants [serum bilirubin(131.2?42.1)?mol/L,indirect bilirubin(126.3?39.7)?mol/L].The genotypes and allele frequencies of the polymorphism were compared between infants with neonatal jaundice group and healthy infant group(control group).The effect of polymorphism in infants with neonatal jaundice group on serum bilirubin level were analyzed.Results There were significant differences in genotypes distribution in Gly71Arg polymorphism for UGT1A1 gene between the 2 groups(?2=9.47 P=0.002).Compared with control group,neonatal jaundice group had significantly higher Arg allele frequency in the polymorphism for UGT1A1 gene(?2=10.34 P=0.001).There were independent effects of Gly71Arg mutation in the gene on serum bilirubin level in neonatal jaundice group,at the carriers of homozygote of the Arg allele of Gly71Arg polymorphism had higher serum bilirubin levels compared to carriers of heterozygote of the Arg allele of the polymorphism and non-carriers of the Arg allele of the polymorphism(Pa