UGT1A1 罕见突变的发现及与对血清胆红素水平变化的相关性分析

Rear Mutation in UGT1A1 and its Effect on Serum Bilirubin Level

目的:在中国汉族人群中查找其他UGT1A1基因突变类型并探究其对血清胆红素水平变化的相关性分析。方法:收集471名中国汉族人群血液标本,采用聚合酶链式反应-单链核苷酸多态性(PCR-SSCP)进行UGT1A1-118 TATA盒的分型,挑选出突变基因型的携带者,并对其家系进行调查及分析。结果:471名受试者中分别发现UGT1A1-118(TA)6/6351名(74.5%),UGT1A1-118(TA)6/7107名(22.7%),UGT1A1-118(TA)7/711名(2.3%),UGT1A1-118(TA)5/72名(0.4%)。对2例罕见基因携带者复测发现血清胆红素水平略微升高,家系中仅出现1例该基因携带者,但其血清胆红素水平正常。结论:中国汉族人群中存在的3例UGT1A1*36/*37携带者,其突变基因与胆红素水平升高暂无明显相关。

Objective UGT1A1 is the key enzyme of bilirubin metabolism,its metabolite indirect bilirubin transfer to direct bilirubin and then eliminate.The most common polymorphism in Chinese is the one in promoter TATA box region(UGT1A1*28)and one in exon 1(UGT1A1*6 Q331X).The purpose of this study is to find out the mutation types of UGT1A1 gene and the correlation analysis of serum bilirubin level in Chinese Han population.Methods The blood samples of 471 Chinese Han people were collected,and the ugt1a1-118 TATA box was typed by PCR-SSCP.The carriers of the mutant genotype were selected,and their families were investigated and analyzed.Results 74.5(351person)patients carry UGT1A1-118(TA)6/6.22.7%(107person)patients carry UGT1A1-118(TA)6/7.2.3%(11person)carry UGT1A1-118(TA)7/7.0.4%(2person)carry UGT1A1-118(TA)5/7.The level of serum bilirubin was slightly increased in 2 cases of rare gene carriers by retest.Only 1 case of the gene carrier was found in the family But its serum bilirubin level is normal.Conclusion There are 3 cases of UGT1A1*36/*37 carriers in Chinese Han population,and there is no significant correlation between the mutation gene and bilirubin level.