Abstract: AbstractObjectiveTo investigate the roles of G71R mutation of the uridine 5 diphosphateglucuronyl transferase 1A1 gene and glucose6phosphate dehydrogenase to bilirubin levels during the first three days of life. MethodsEightyone umbilical cord blood samples had been collected for neonatal screening of G6PD activity and identification of G71R mutation by allelespecific oligonucleotide assay.We compared the bilirubin levels during the first three days after birth between different groups. ResultsAmong the G6PD deficient neonates,the bilirubin levels of the second and third day for G71R homozygous or heterozygous group were significantly higher than those of G71R widetype group.Among G6PD normal neonates,no significant differences were noted for the bilirubin levels during the first three days after birth between G71R homozygous or heterozygous group and G71R widetype group.Among G71R widetype neonates,no significant differences were noted for the bilirubin levels during the first three days after birth between G6PDdeficient group and G6PDnormal group. ConclusionG71R gene mutation combined with G6PDdeficiency aggravates the degree of neonatal jaundice.

Key words: UGT1A1 , Neonatal jaundice, Bilirubin

摘要： 目的探讨葡萄糖醛酸转移酶1A1(UGT1A1)基因G71R突变、葡萄糖6磷酸脱氢酶(G6PD)缺陷对新生儿生后前3d胆红素浓度的影响。 方法测定81例新生儿脐血的G6PD活性及G71R基因型，分组比较生后前3d光疗前胆红素值的组间差异。用等位基因特异性寡核苷酸探针点杂交法(ASO)确定G71R基因型。 结果在G71R野生型新生儿中，G6PD缺乏组与G6PD正常组相比，生后前3d胆红素值间无统计学差异。G6PD正常新生儿中,G71R突变纯合子或杂合子的新生儿生后前3d胆红素浓度与G71R正常野生型新生儿相比无统计学差异。G6PD缺陷新生儿中，同时合并有G71R突变纯合子或杂合子的新生儿组生后第2天、第3天胆红素浓度高于G71R正常野生型新生儿组。 结论G6PD缺乏与G71R基因突变并存加重新生儿黄疸程度。

关键词: 葡萄糖6磷酸脱氢酶缺乏症, 新生儿黄疸, 胆红素, 葡萄糖醛酸转移酶1A1