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目的探讨胆红素-尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因Gly71Arg突变和有机阴离子转运因子2(OATP2)基因Asn130Asp突变与新生儿黄疸发病的关系。方法应用聚合酶链反应-限制性长度多态性方法测定无亲缘关系的汉族新生儿黄疸组与健康对照组的UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型,并检验两组基因型分布、等位基因频率差异,应用Logistic多元回归分析两种基因突变对新生儿黄疸的OR值和95%CI。结果新生儿黄疸组UGT1A1Gly71Arg和OATP2Asn130Asp基因多态性的基因型分布与对照组差异有统计学意义(χ2=9.47和6.16,P=0.002和0.046),Arg和Asp等位基因频率明显高于对照组(χ2=10.34和6.85,P=0.001和0.009);logistic多元回归分析UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变对新生儿黄疸的OR值和95%CI分别为2.66(1.38~4.51)和2.32(1.23~3.95)(P=0.011和0.024)。结论UGT1A1基因Gly71Arg和OATP2基因Asn130Asp突变可能参与新生儿黄疸的发病。
Objective To investigate the relationship between Gly71Arg mutation of UGT1A1 gene and Asn130Asp mutation of OATP2 gene in the pathogenesis of neonatal jaundice. Methods The genotypes of UGT1A1Gly71Arg and OATP2Asn130Asp polymorphisms in non-related Han neonates with jaundice and healthy controls were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotype distribution, Logistic multiple regression analysis was used to analyze the OR value and 95% CI of the two genetic mutations in neonatal jaundice. Results The genotype distributions of UGT1A1Gly71Arg and OATP2Asn130Asp polymorphisms in neonatal jaundice group were significantly different from those in control group (χ2 = 9.47 and 6.16, P = 0.002 and 0.046). The frequencies of Arg and Asp alleles were significantly higher than those in control group (χ2 = 10.34 and 6.85, P = 0.001 and 0.009 respectively). Logistic multiple regression analysis showed that the OR and UGT of UGT1A1 gene Gly71Arg and OATP2 gene Asn130Asp mutation were 2.66 (1.38-4.51) and 2.32 3.95) (P = 0.011 and 0.024). Conclusion UGT1A1 gene Gly71Arg and OATP2 gene Asn130Asp mutation may be involved in the pathogenesis of neonatal jaundice.