尿苷二磷酸葡萄糖醛酸转移酶1A1基因常见多态性位点的分布  

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

作　　者：陈志威[1] 苏大芝[1] 曹勤[1] 江小柯[1] 吴昌维[1] 许青青[1] 艾罗燕[1] 王晓晗[1] 范竹萍[1] 

机构地区：[1]交通大学医学院附属仁济医院健康保健中心上海市消化疾病研究所,上海200001

出　　处：《中华消化杂志》2014年第5期311-315,共5页Chinese Journal of Digestion

摘　　要：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）1AI基因突变情况，完善UGTlAl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UGTlAl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UGTIAl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EA（TA），TAA]以及第1外显子区P．G71R（e．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UGTlAl基因有一定的变异发生率，c．-3275T〉G、A（TA），TAA和C．211G〉A是上海地区常见的UGTlAl基因多态性位点。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 UGTIA1 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 UGTIA1 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 UGTIA1 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 UGTIA1 in Shanghai area.

关 键 词：高胆红素血症 多态现象 遗传 突变 GILBERT综合征 尿苷二磷酸葡萄糖醛酸基转移酶 

分 类 号：R3411[医药卫生—基础医学]