摘要
目的探讨葡萄糖醛酸转移酶(UGT)1A1基因G71R突变合并葡萄糖-6-磷酸脱氢酶(G6PD)缺陷对新生儿胆红素浓度的影响。方法 2013年1月至2014年5月间62例足月新生儿病例62例。根据脐血G6PD水平分组,缺陷组36例,正常组26例,分别测定患者的UGT1A1基因G71R突变和胆红素水平,并进行组间比较分析。结果G6PD缺陷组病例与正常组的UGT1A1基因型分布比较差异无统计学意义,两组间等位基因G71R突变频率比较差异无统计学意义(P>0.05)。G6PD缺陷组病例出生后1 d UGT1A1基因G71R纯合子/杂合子分型的胆红素水平与野生型比较差异无统计学意义(P>0.05),出生后2 d和3 d的胆红素水平显著高于野生型(P<0.05);G6PD正常组病例出生后1 d、2 d和3 d UGT1A1基因G71R的纯合子/杂合子分型与野生型比较差异无统计学意义(P>0.05);G6PD缺陷组与正常组病例UGT1A1基因G71R纯合子/杂合子分型的胆红素水平在出生后1 d时比较差异无统计学意义(P>0.05),出生后2 d和3 d比较缺陷组显著高于正常组(P<0.05)。结论 UGT1A1基因G71R突变与G6PD缺陷在加重新生儿胆红血症及黄疸方面具有协同作用,该类患儿应作为临床的重点工作对象,密切观察和监护,及早发现胆红素水平异常和早期干预,以减少因胆红素血症而引发的各类危重疾病的发生。
Objective To explore the effect of mutation in G71 R of glucuronyl transferase（ UGT） 1A1 gene associated with the defect in glucose- 6- phosphate dehydrogenase（ G6PD） on neonatal bilirubin concentration. Methods A total of 62 full- term newborns in this hospital during January 2013 to May 2014 were divided into 2 groups according to the level of G6 PD in umbilical blood,36 cases were allocated in defect group,and 26 cases in normal newborn group,the mutation of G71 R in UGT1A1 gene and serum levels of bilirubin were examined and compared between these 2 groups. Results The distribution of UGT1A1 genotype in patients with G6 PD deficiency group and normal newborn group had no significant difference between these two groups,the difference in allele frequency of G71 R mutation between these 2 groups was not significant（ P〈0. 05）. The difference in bilirubin level of patients with G6 PD defect associated with UGT1A1 gene homozygous G71 R / miscellaneous zygote type in one day after birth compared with those with wild type was not significant（ P〉0. 05）,the difference in bilirubin levels of these patients in 2 D and 3 D after birth was significantly higher than that of patients with wild type（ P〉0. 05）. The bilirubin levels of newborns with normal G6 PD group in 1 D,2 D and 3 D after birth,UGT1A1 gene homozygous G71 R / heterozygote type and those with wild type had no significant difference（ P〈0. 05）. The bilirubin level in newborns with G6 PD deficiency group and normal group with UGT1A1 gene homozygous G71R/ heterozygote type in 1 day after birth had no significant difference（ P〉0. 05）,the bilirubin level in newborns in defect group in 2 and 3 d after birth was significantly higher than that of newborns in normal group（ P〈0. 05）. Conclusion The mutation of G71 R in UGT1A1 gene has synergistic effect with G6 PD defect in the increase of degree of bilirubinemia and neonatal jaundice,these children should be regarded as clinical focus objects and need close observation and ca
出处
《临床和实验医学杂志》
2016年第1期29-31,共3页
Journal of Clinical and Experimental Medicine
