Distribution of common polymorphic loci of gene uridine diphosphate-glucuronosyltransferase 1A1

Objective To detect the level of adult serum total bilirubin (TBil) and uridine diphosphate (UDP)-glucuronosyltransferase (UGT)1A1 gene mutations in people with different level of TBil,and try to improve gene UGT1A1 mutation library.Methods A total of 209 health check-up individuals were enrolled.Phenobarbital responsive enhancer module (PBREM) region,promoter region (TATA box) and the five exons of UGT1A1 of them were tested,chi-square was for rate comparison of count data.Results There were totally 11 polymorphic loci of gene UGT1A1 possibly associated with the elevated level of serum TBil detected.And there were three common variants with the detection rate more than 10％ in general population,which was PBREM variant (c.-3275T＞G),promoter TATA box duplication mutation (A (TA)7TAA) and p.G71R (c.211G＞A).When TBil fluctuated within the normal range,all the detection rates of PBREM variant,promoter TATA box duplication mutation and p.G71R were high and kept certain level.The average detection rate of the three variants in normal population was up to 26.7 ％,9.1 ％ and 15.7 ％,respectively.Conclusions There is a certain mutation rate in elevated TBil associated with gene UGT1A1 in healthy people.The mutations of c.-3275T＞G,A (TA)7 TAA and c.211G＞A are the three common polymorphic loci of gene UGT1A1 in Shanghai area. Key words: Hyperbilirubinemia;  Polymorphism, genetic;  Mutation;  Gilbert syndrome;  UGT