CAJ | 학술논문

目的分析成人血清TBil水平的分布情况,检测不同血清TBil水平人群的尿苷二磷酸葡萄糖醛酸转移酶(UGT) 1A1基因突变情况,完善UGT1A1基因的突变库.方法纳入上海地区209名不同TBil水平体检人群,分别对其进行UGT1A1基因的增强子苯巴比妥反应增强元件(PBREM)区、启动子TA盒以及5个外显子的基因检测.计数资料采用率的卡方检验比较.结果 209名体检人群中共检测到11个可能与血清TBil水平升高相关的UGT1A1基因多态性位点,总人群检出率＞10％的共有3个,即PBREM变异(c.-3275T＞G)、启动子TA盒重复变异[A(TA)7TAA]以及第1外显子区p.G71R(c.211G＞A).当TBil在正常范围内波动时,PBREM、启动子TA盒重复变异和p.G71R均存在较高的检出率且各自维持在一定的水平,三者在TBil正常人群的平均水平分别高达26.7％、9.1％和15.7％.结论在健康人群中发现与TBil升高相关的UGT1A1基因有一定的变异发生率,c.-3275T＞G、A(TA)7TAA和c.211G＞A是上海地区常见的UGT1A1基因多态性位点.
목적 분석성인혈청TBil수평적분포정황,검측불동혈청TBil수평인군적뇨감이린산포도당철산전이매(UGT) 1A1기인돌변정황,완선UGT1A1기인적돌변고.방법 납입상해지구209명불동TBil수평체검인군,분별대기진행UGT1A1기인적증강자분파비타반응증강원건(PBREM)구、계동자TA합이급5개외현자적기인검측.계수자료채용솔적잡방검험비교.결과 209명체검인군중공검측도11개가능여혈청TBil수평승고상관적UGT1A1기인다태성위점,총인군검출솔＞10％적공유3개,즉PBREM변이(c.-3275T＞G)、계동자TA합중복변이[A(TA)7TAA]이급제1외현자구p.G71R(c.211G＞A).당TBil재정상범위내파동시,PBREM、계동자TA합중복변이화p.G71R균존재교고적검출솔차각자유지재일정적수평,삼자재TBil정상인군적평균수평분별고체26.7％、9.1％화15.7％.결론 재건강인군중발현여TBil승고상관적UGT1A1기인유일정적변이발생솔,c.-3275T＞G、A(TA)7TAA화c.211G＞A시상해지구상견적UGT1A1기인다태성위점.
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.