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目的探讨尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)Gly71Arg、TATA盒基因突变和葡萄糖-6-磷酸脱氢酶(G6PD)基因突变与新生儿高未结合胆红素血症的关系。方法 UGT1A1 TATA盒、外显子1、外显子5和G6 PD基因外显子12经PCR扩增和测序,构建突变样本的克隆,对其进行验证。分析病例组及对照组UGT1A1 Gly71Arg和TATA盒基因多态性频率的差异,应用logistic回归分析基因突变对新生儿高未结合胆红素血症发生的影响。结果病例组UGT1A1 Gly71Arg基因多态性的基因型分布与对照组比较差异有统计学意义(P<0.01)。病例组Arg等位基因频率明显高于对照组(P<0.01)。病例组UGT1A1 TATA盒基因突变型分布与对照组比较差异无统计学意义(P>0.05)。Logistic回归分析显示UGT1A1 Gly71Arg、TATA盒基因和G6PD基因突变对新生儿高未结合胆红素血症发生的OR值(95%CI)分别为5.468(2.274,12.818)、0.688(0.266,1.778)和5.081(1.070,24.133)。结论 UGT1A1 Gly71Arg和G6PD基因突变可能是新生儿高未结合胆红素血症发生的原因。
Objective To investigate the relationship between uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) Gly71Arg, TATA box gene mutation and G6PD gene mutation and neonatal unconjugated hyperbilirubinemia. Methods The UGT1A1 TATA box, exon 1, exon 5 and G6 PD gene exon 12 were amplified by PCR and sequenced. Clones of the mutant samples were constructed and verified. The frequency of UGT1A1 Gly71Arg and TATA box gene polymorphisms in case group and control group were analyzed. Logistic regression analysis was used to analyze the effect of gene mutation on the incidence of neonatal un-conjugated bilirubin. Results The genotype distribution of UG71A1 Gly71Arg gene polymorphism in case group was significantly different from that in control group (P <0.01). The frequency of Arg allele in case group was significantly higher than that in control group (P <0.01). There was no significant difference in the mutation distribution of UGT1A1 TATA box gene between the cases and the control group (P> 0.05). Logistic regression analysis showed that the odds ratios (95% CI) of UGT1A1 Gly71Arg, TATA box gene and G6PD gene mutation in neonates with high unbound bilirubin were 5.468 (2.274,12.818), 0.688 (0.266,1.778) and 5.081 (1.070,24.133). Conclusion The mutations of Gly71Arg and G6PD in UGT1A1 gene may be responsible for the occurrence of neonatal unconjugated hyperbilirubinemia.