摘要
目的:探讨胆红素尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因编码区的Gly71Arg(G71R)突变与越南新生儿黄疸的关系。方法:选择2017年1月至2018年6月在越南平顺省综合医院住院治疗的越南籍足月新生儿149例,根据是否患有高胆红素血症分为病例组(99例)和对照组(无黄疸,50例)。采用PCR和DNA直接测序法检测两组UGT1A1 G71R突变频率,比较两组UGT1A1 G71R基因型分布及等位基因频率,观察病例组UGT1A1基因突变类型及其不同基因型患儿血清总胆红素水平。结果:病例组和对照组G71R突变等位基因频率分别为27.3%和5.0%,两组比较差异有统计学意义( P <0.01)。病例组G71R纯合子患儿血清总胆红素水平高于野生型及杂合子患儿(均 P <0.01)。结论:越南新生儿高胆红素血症的发生及其严重程度可能与UGT1A1 G71R基因突变有关。
Objective: To investigate the relationship between newborn jaundice of Vietnam population and the Gly71Arg gene polymorphism of bilirubin uridine diphosphateglucuronosyl transferase (UGT1A1). Methods: A total of 149 neonates were divided into the hyperbilirubinemia group (case group, n =99) and non-jaundice group (control group, n =50).The G71R genotype of UGT1A1 was detected by PCR and direct sequencing.UGT1A1 G71R genotype distribution and the differences in allele frequencies were compared between the two groups.The types of UGTlA1 mutation in the case group and the total serum bilirubin (TSB) levels with different genotypes were observed. Results: The frequency of Gly71Arg allele mutation in the case group and the control group was 27.3% and 5.0%,respectively ( P <0.01).In the case group,the TSB level of G71R homozygous children was higher than that of the wild type and heterozygous children ( P <0.01). Conclusion: The UGT1A1 G71R mutation may be related to the occurrence and severity of neonatal hyperbilirubinemia in Vietnam.
作者
阮进成
钟丹妮
羊希
赵薇
Nguyen Tien thanh;Zhong Danni;Yang Xi;Zhao Wei(The First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)
出处
《广西医科大学学报》
CAS
2019年第5期793-796,共4页
Journal of Guangxi Medical University
基金
国家自然科学基金资助项目(No.81460241)
