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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。
Objective To investigate the effect of the G71R mutation of glucuronosyltransferase 1A1 (UGT1A1) gene and the deficiency of glucose-6-phosphate dehydrogenase (G6PD) on the pre-natal 3d-bilirubin concentration in neonates. Methods The G6PD activity and G71R genotypes were determined in 81 neonates with umbilical cord blood, and the differences between the groups were compared between groups. G71R genotypes were determined using allele-specific oligonucleotide probe dot hybridization (ASO). Results In G71R wild-type neonates, there was no significant difference in pre-natal 3d bilirubin between G6PD deficiency group and G6PD normal group. In G6PD normal newborns, there was no significant difference in the pre-natal 3D bilirubin concentration of G71R mutant homozygotes or heterozygotes compared with that of G71R normal wild-type neonates. In neonates with G6PD deficiency, the concentrations of bilirubin in neonates with G71R mutation homozygotes or heterozygotes were higher than those in G71R normal wild-type neonates at 2 and 3 days after birth. Conclusions G6PD deficiency and G71R mutation co-exist with neonatal jaundice.