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目的:探讨重庆地区足月新生儿高未结合胆红素血症与UGT1A1基因多态性的关系。方法 :采用回顾性研究,纳入330例高未结合胆红素血症足月新生儿,根据病因明确及换血与否分别分组为病因明确组,病因不明组;换血组、非换血组。提取患儿血DNA,PCR扩增包括UGT1A1启动子区域、编码区第1外显子及部分内含子区域并测序,运用二分类变量单因素logistic回归分析基因多态性与新生儿高未结合胆红素血症的关系。结果:病因明确210例,病因不明120例;换血组213例,非换血组117例。211G>A总突变率、纯合突变率、杂合突变率在病因明确组分别为38.6%、6.2%、32.4%;病因不明组分别为49.2%、11.7%、37.5%,基因突变率明显高于病因明确组(P<0.001),logistic回归分析示UGT1A1基因211G>A突变对病因不明足月新生儿高未结合胆红素血症及换血组高未结合胆红素血症发生的OR值(95%CI)分别为1.54(3.083~8.108)和2.64(1.278~4.508)。结论:重庆地区足月新生儿病因不明高未结合胆红素症可能与UGT1A1基因211G>A突变相关。
Objective: To investigate the relationship between high unbound bilirubin in term neonates and UGT1A1 gene polymorphism in Chongqing area. Methods: A retrospective study was conducted in 330 neonates with full-term unconjugated bilirubin. All patients were divided into etiology-specific and etiological-unknown groups according to the etiology and exchange of blood or not. The blood DNA of children was extracted. PCR amplification included the UGT1A1 promoter region, exon 1 and some intron regions of coding region. Sequencing was performed using binary logistic regression analysis of single-factor logistic regression. The relationship between bilirubin. Results: There were 210 etiologies, 120 etiologically unknown, 213 transfusions and 117 non-transfusions. The total mutation rate, homozygous mutation rate and heterozygous mutation rate of 211G> A were 38.6%, 6.2% and 32.4% respectively in the definite group of etiology, and 49.2%, 11.7% and 37.5% in etiology group, respectively. Logistic regression analysis showed that the 211G> A mutation of UGT1A1 gene was associated with OR of high unbound bilirubin in full-term newborns and high unbound bilirubin in blood transfusion group in the etiology-specific group (P <0.001) (95% CI) were 1.54 (3.083 ~ 8.108) and 2.64 (1.278 ~ 4.508) respectively. Conclusion: Unconjugated bilirubin in term neonates in Chongqing may be related to the 211G> A mutation of UGT1A1 gene.