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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 investigate the relationship between UGT1A1 promoter TATA and G71A, OATR1B1 A388G and T521C, and G6PD G1376T polymorphism of uridine diphosphate glucuronosyltransferase (UGT1A1) Correlation with bilirubin metabolism. Methods Full-term neonates admitted to neonatology department of our hospital from June 2012 to September 2013 were enrolled in this study. Children with hyperbilirubinemia were selected as case group and jaundice-free children as control group. DNA was extracted by conventional methods and amplified by polymerase chain reaction (PCR). The products were identified by agarose gel electrophoresis, and the PCR products were subjected to DNA sequencing. Results The cases of 150 cases, control group of 50 cases. The mutation frequency of UGT1A11Gly71Arg was 30% in the case group and 12% in the control group (P <0.05). The mutation frequency of OATP1B1 T521C gene was 8% in the case group and 2% in the control group, the difference was statistically significant (P <0.05). The homozygous mutation of OATP1B11A388G gene was not found in the control group. The frequency of allele mutation was 26% in case group and 23% in control group, with no significant difference between the two groups (P> 0.05). The mutation frequency of UGT1A1 TATA allele in case group was 4% in the control group and 2% in the control group. There was no significant difference between the two groups (P> 0.05). This test found only one case of G6PD gene G1376T mutation. Conclusion There is no correlation between bilirubin metabolism and UGT1A1TATA, OATP1B11A388G polymorphism in some unknown neonates with hyperbilirubinaemia in the region, but with UGT1A1 Gly71Arg and OATP1B1 T521C polymorphisms, and the relationship with UGT1A1 Gly71Arg is more close.