影响胆红素代谢的基因多态性研究  

Study on gene polymorphism of bilirubin metabolism

作　　者：刘玲[1] 蒋榆辉[1] 和灿琳[1] 张路[1] 李翠莲[1] 

机构地区：[1]昆明市儿童医院新生儿科,650031

出　　处：《中国新生儿科杂志》2016年第1期32-35,共4页Chinese Journal of Neonatology

基　　金：昆明市科技局科技计划项目(2012-04-01-A-S-02-1016)

摘　　要：目的探讨尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因启动子TATA和G71A、有机阴离子转运多肽1B1(OATR1B1)基因A388G和T521C以及葡萄糖-6-磷酸脱氢酶(G6PD)基因G1376T多态性与胆红素代谢的关联性。方法选择2012年6月至2013年9月我院新生儿科收治的足月新生儿,根据纳入标准将高胆红素血症患儿列为病例组,无黄疸患儿为对照组。采用常规方法提取DNA,用聚合酶链反应(PCR)方法扩增,琼脂糖凝胶电泳鉴定产物,PCR产物进行DNA测序。结果病例组150例,对照组50例。病例组UGT1A11Gly71Arg突变频率为30%,对照组为12%,差异有统计学意义(P<0.05);病例组OATP1B1 T521C基因突变频率为8%,对照组为2%,差异有统计学意义(P<0.05)。对照组未发现OATP1B11A388G基因变异纯合子,病例组等位基因突变频率为26%,对照组为23%,两组差异无统计学意义(P>0.05);病例组UGT1A1 TATA等位基因突变频率为4%,对照组为2%,两组比较差异无统计学意义(P>0.05)。本次检测仅发现1例G6PD基因G1376T突变。结论本地区部分原因不明的新生儿高胆红素血症患儿胆红素代谢与UGT1A1TATA、OATP1B11A388G多态性无相关性,而与UGT1A1 Gly71Arg、OATP1B1 T521C多态性相关,并且与UGT1A1 Gly71Arg关系更密切。Objective To explore the relationship between gene polymorphisms including： uridinediphosphate glucuronosyl transferase 1A1 （ UGT1A1 ） gene promoter TAT, gene G71A, organic anion-transporting polypeptide （ OATP1B1 ） gene （ A388G and T521C ）, Glucose-6-phosphate dehydrogenase （G6PD）gene G1376T and bilirubin metabolism. Methods Total of 150 neonates with hyperbilirubinemia from the Department of Neonatology of Kunming children＇s Hospital were recruited between June 2012 to September 2013 as the experimental group. 50 neonates from the Department of Neonatology were enrolled as the control group who had no hyperbilirubinemia. DNA was extracted by conventional methods in the 200 neonates. DNA was amplified by the polymerase chain reaction （PCR） method. PCR products were identified by agarose gel electrophoresis and those PCR products were then sequenced. Results There was a significant difference between the experimental group （30%） and the control group （12%） with respect to the gene mutation rate of UGTIA1 Gly71Arg （P 〈 0. 05 ）. The gene mutation rate of OATP1B1 T521C was significantly higher in the experimental group than in the control group （8% vs 2%, P 〈0. 05）. Homozygosity of OATPIB1 A388G gene variation in the control group did not exist. Allele mutation frequency was higher in the experimental group than in the control group, but the difference was not significant （26% vs 23%, P 〉 0. 05 ）. Similarly, UGTIA1 TAT allelie mutation frequency was higher in the experimental group than in the control group, but the difference was not significant （4% vs 2%, P 〉 0. 05 ）. G6PD gene G1376T mutation was detected in only one case. Conclusions The gene polymorphism of UGTIA1 TATA, OATPIB1 A388G were not associated with hyperbilirubinemia. However, the gene mutation rate of UGTIA1 Gly71Arg, OATPIB1 T521C may be associated factors contributing to hyperbilirubinemia.

关 键 词：尿苷二磷酸葡萄糖醛酸转移酶 有机阴离子转运体 葡萄糖-6-磷酸脱氢酶 基因多态性 高胆红素血症 新生儿 

分 类 号：R722.1[医药卫生—儿科]