G6PD基因突变位点与酶活性、新生儿溶血性黄疸的关系  

The Relationship between G6PD Gene Mutation Site and Enzyme Activity and Neonatal Hemolytic Jaundice

作　　者：袁静 YUAN Jing(Guangdong Medical University,Dongguan,Guangdong Province,523000 China;Department of Pediatrics,the Eighth People's Hospital of Dongguan City,Dongguan,Guangdong Province,523000 China)

机构地区：[1]广东医科大学,广东东莞523000 [2]广东省东莞市第八人民医院儿科,广东东莞523000

出　　处：《中外医疗》2021年第14期39-42,共4页China & Foreign Medical Treatment

摘　　要：目的探究G6PD基因突变位点与G6PD活性的关系以及G6PD基因突变位点与溶血性黄疸的关系。方法方便选取2016年10月—2018年10月于该院诞生的G6PD缺乏溶血性黄疸的41例新生患儿,使用突变特异性扩增系统(ARMS)法,对41例患儿的基因变异类型进行检测并记录黄疸起始时间、血红蛋白水平、总胆红素水平、G6PD活性。结果最终检测出1376M突变15例、95M突变3例、1024M突变8例、392M突变2例、1388M突变11例、871M突变1例、1376M和95M复合突变1例。7例患儿G6PD酶严重缺乏,其中6例患儿基因型为1376M位点变异,占85.7%;在酶活性重度缺乏基因型中,1388M和1376M基因位点变异的患儿分别占30.8%、26.9%。95M基因位点变异的患儿均为酶活性中度缺乏型。1024M基因位点变异的患儿酶活性为中轻度缺乏;871M基因位点变异患儿为酶活性轻度缺乏。患儿表现的基因突变位点与母亲的基因突变位点一致。黄疸的生成与总胆红素水平过高有关,该类患儿的主要变异基因型为1024M(25.0%)、1388M(25.0%)、1376M(41.7%)。不同儿基因变异位点患儿的黄疸起始日龄、总胆红素水平、HGB水平差异无统计学意义(P>0.05)。结论G6PD基因发生突变会导致酶活性降低以及造成新生儿溶血性黄疸,但是G6PD基因突变种类与黄疸起始日龄、血红蛋白水平、总胆红素、G6PD酶活性之间无直接联系。Objective To explore the relationship between G6PD gene mutation site and G6PD activity and the relationship between G6PD gene mutation site and hemolytic jaundice.Methods 41 newborn children with G6PD lacking hemolytic jaundice who were born in the hospital from October 2016 to October 2018 were conveniently selected.The mutation-specific amplification system(ARMS)method was used to compare 41 cases of the types of genetic mutations of the children and the onset time of jaundice,hemoglobin level,total bilirubin level,and G6PD activity were recorded.Results 15 cases of 1376M mutation,3 cases of 95M mutation,8 cases of 1024M mutation,2 cases of 392M mutation,11 cases of 1388M mutation,1 case of 871M mutation,1 case of 1376M and 95M mutation were finally detected.7 children were severely deficient in G6PD enzyme,of which 6 children had a 1376M locus mutation,accounting for 85.7%;among the genotypes with severe enzyme activity deficiency,children with 1388M and 1376M gene locus mutations accounted for 30.8%,26.9%.The children with 95M gene locus mutations are all of the moderately deficient type of enzyme activity.Children with 1024M gene locus mutation had moderate to mild deficiency;children with 871M gene locus mutation had mild deficiency of enzyme activity.The gene mutation site of the child was consistent with the mother's gene mutation site.The production of jaundice was related to excessively high levels of total bilirubin.The main variant genotypes of this type of children were 1024M(25.0%),1388M(25.0%),and 1376M(41.7%).There was no statistically significant difference between the different gene mutation sites in the age of onset of jaundice,the level of total bilirubin,and the level of HGB(P>0.05).Conclusion Mutations in the G6PD gene can lead to reduced enzyme activity and cause hemolytic jaundice in newborns,but there is no direct relationship between the type of G6PD gene mutation and the age of onset of jaundice,hemoglobin level,total bilirubin and G6PD enzyme activity contact.

关 键 词：新生儿 高胆红素血症 葡萄糖-6-磷酸脱氢酶 基因 

分 类 号：R72[医药卫生—儿科]