Relationship between bilirubin uridine diphosphate-glucuronosyl transferase 1 A1 gene mutation and susceptibility to neonatal jaundice
CHEN Hong
ZHONG Danni
GAO Zongyan
WU Xiaojing
WEI Luming
Abstract：Objective To investigate the relationship between newborn jaundice of Guangxi population and the gene mutation in exon 1 and TATA box of bilirubin uridine diphosphate-glucuronosyl transferase (UGT1A1).Methods Totally 102 cases with newborn hyperbilirubinemia (case group)and 50 neonates without newborn jaundice (control group)were included.TATA box and exon 1 genotypes of UGT1A1 in the two groups were detected by PCR and direct sequencing. UGT1A1 G71R genotype distribution and the differences in allele frequencies were compared between these two groups.The types of UGT1A1 mutation in the case group and the total serum bilirubin (TSB)levels in children patients at 72 hours af-ter birth with different genotypes were observed.Results Significant difference was found in the UGT1A1 G71R genotype distribution and allele frequencies between these two groups (all P <0.01).There were 40 cases with G71R missense mu-tation,2 cases with (TA)7 insertion mutation,and 1 case with 715C→T heterozygous nonsense mutation in the case group.In the case group,the TSB level of G71R homozygous children patients was higher than that of the wild type and heterozygous children (all P <0.05).Conclusions The G71R mutation of UGT1A1 gene is the main mutation type and closely related with newborn hyperbilirubinemia in Guangxi region.The new-found 715C→T nonsense mutation may be one of the important causes of neonatal bilirubin encephalopathy.
Keywords：hyperbilirubinemianeonatalbilirubin uridine diphosphate-glucuronosyltransferase1A1gene
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 22-25 )