【摘要】 目的探讨高胆红素血症与易感基因-UGT1A1 TA-TA盒的多态性相关性,进一步明确新生儿高胆红素血症的发病机制。方法实验分为高胆红素血症组(A组)和健康新生儿对照组(B组)。分别抽取患儿及健康新生儿外周静脉血,提取两组基因组DNA,PCR扩增UGT1A1基因。PCR产物纯化后直接测序找出相应的突变点。结果两组的孕龄、体质量、性别及喂养方式比较差异均无统计学意义。A、B两组基因型分布:A组基因型分布差异有统计学意义(P<0.01),A组38例杂合子A(TA)6TAA/A(TA)7TAA型基因突变占15.8%,B组占0%;A、B组均无纯合子A(TA)7TAA/A(TA)7TAA型基因突变;A组基因型突变率明显高于B组。结论易感基因-UGT1A1 TATA盒多态性与新生儿高胆红素血症具有明显的相关性。更多还原

【Abstract】 Objective To study the correlation between predisposing genes—UGT1A1 TATA box polymorphism between neonate hyperbilirubinemia so as to identify better pathogenesy of neonates with hyperbilirubinemia.Methods The subjects were divided into group A which consisted of 38 cases of hyperbilirubinemia and group B,a control group,which consisted of 36 healthy new-borns.Peripheral vein blood samples were drawn from the new-borns of two groups,from which genomic DNA was extracted respectively according to kit instructions.Polymerase chain reaction(PCR) was employed to amplify UGT1A1 gene.TATA box,the UGT1A1 gene promoter,primer sequence were designed.The product fragment length of 528 bp was projected as well.Relevant mutational sites were found after directly sequencing the purified PCR product.Results There was no significant difference in gestational age,birth weight,gender difference and feeding patterns between two group;The genotype distributions in group A varied(P<0.01),heterozygote[simplified(TA)6/7] type gene mutation accounted for 15.8% in group A,0% in group B.Moreover,homozygote[simplified(TA)7/7] type gene mutation accounted for 0% in group A and 0% in group B respectively.The gene mutation rates in both group A were higher than those in the control group.Conclusion There are closely correlated with predisposing genes—UGT1A1 TATA box polymorphism in neonate hyperbilirubinemia.更多还原