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目的:探讨尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因Gly71Arg突变与新生儿高胆红素血症的关系。方法:以该院2012年3月~2013年9月间诞生的新生儿为研究对象,根据是否发生高胆红素血症分为观察组和对照组,观察组新生儿252例,对照组新生儿236例,采用突变特异性扩增系统检测UGT1A1基因Gly71Arg的突变情况。结果:两组新生儿中Gly71Arg突变的A等位基因频率分别为0.26%和0.11%,组间比较差异具有统计学意义(χ2=21.43,P<0.05);与携带G/G基因型的新生儿相比,携带Gly71Arg突变基因型(A/A+G/A)的新生儿可增加发病风险(OR=2.68,95%CI 1.79~4.42)。结论:UGT1A1基因Gly71Arg突变与新生儿高胆红素血症的发生密切相关。
Objective: To investigate the relationship between Gly71Arg mutation of uridine diphosphate glucuronyl transferase 1A1 (UGT1A1) gene and neonatal hyperbilirubinemia. Methods: The newborn born in the hospital from March 2012 to September 2013 was selected as the research object. According to whether hyperbilirubinemia occurred or not, the observation group and the control group were divided into observation group, 252 cases of newborn and control group of freshmen A total of 236 cases of children, UGT1A1 Gly71Arg mutation detection using mutation-specific amplification system. Results: The frequency of allele A of Gly71Arg mutation in two groups was 0.26% and 0.11%, respectively. There was significant difference between the two groups (χ2 = 21.43, P <0.05). Compared with those with G / G genotype Neonates carrying the Gly71Arg mutant genotype (A / A + G / A) increased the risk of developing disease (OR = 2.68, 95% CI 1.79-4.42). Conclusion: The Gly71Arg mutation of UGT1A1 gene is closely related to the occurrence of neonatal hyperbilirubinemia.