珠海市新生儿葡萄糖6磷酸脱氢酶缺乏筛查结果分析  

Analysis of glucose 6-phosphate dehydrogenase deficiency screening results on newborns in Zhuhai

作　　者：张素粉 肖奇志[1] 李恋湘 唐娜 周玉球[1] ZHANG Sufen;XIAO Qizhi;LI Lianxiang;TANG Na;ZHOU Yuqiu(Department of Clinical Laboratory&Zhuhai Institute of Medical Genetics,Zhuhai Center for Maternal and Child Health Care,Zhuhai,Guangdong 519001,China)

机构地区：[1]珠海市妇幼保健院检验科(遗传研究所),广东珠海519001

出　　处：《中国优生与遗传杂志》2021年第5期719-721,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨珠海市新生儿葡萄糖6-磷酸脱氢酶(G6PD)缺乏、新生儿高胆红素血症发病情况及该地区G6PD缺乏基因突变热点。方法收集2015年1月—2020年7月于珠海市妇幼保健院出生的42480例新生儿脐血行G6PD酶活性检测,同时回顾性分析同期内8450例因新生儿高胆红素血症入院新生儿G6PD酶活性及基因位点突变类型。结果 42 480例新生儿G6PD缺乏阳性率6.39%,女性阳性率高于男性,差异有统计学意义(P<0.001),8450例新生儿发生高胆红素血症,发病率为19.89%,男性发病率高于女性,差异有统计学意义(P=0.009),G6PD缺乏所致新生儿高胆红素血症发病率14.47%,男性明显高于女性,差异有统计学意义(P<0.001)。男性G6PD缺乏患儿残余酶活性以低于10%为主,女性G6PD携带者则以60%~100%残余酶活性为主,差异有统计学意义(P<0.001),本地区热点突变基因型以c.1388G>A、c.1376G>T、c. 95A>G、871G>A为主,合并约占比90.96%。结论珠海市新生儿G6PD缺乏发病率及G6PD缺乏所致新生儿高胆红素血症发病率较高且均有性别差异,本地区热点突变基因型以c.1388G>A、c.1376G>T、c.95A>G、871G>A为主。Objective To explore the incidence of glucose 6 phosphate dehydrogenase(G6PD) deficiency,neonatal hyperbilirubinemia,and G6PD deficiency gene mutation in Zhuhai.Methods Collected cord blood of 42480 neonates born in Zhuhai Center for Maternal and Child Health Care from January 2015 to July 2020 for G6PD enzyme activity test,and analyze G6PD enzyme activity and gene mutation types of 8450 children admitted to the hospital for neonatal hyperbilirubinemia during the same period,retrospectively.Results The G6PD deficiency positive rate was 6.39%,and the females was higher than that of males with the difference was statistically significant(P<0.001).The incidence rate of hyperbilirubinemia was 19.89%,and the males was higher than females with difference was statistically significant(P=0.009),neonatal hyperbilirubin caused by G6PD deficiency was 14.47%,males were significantly higher than females(P<0.001).The residual enzyme activity of male with G6PD deficiency is mainly lower than 10%,while the female G6PD residual enzyme activity is mainly 60%-100%(P<0.001).The hotspot mutation genotypes in this region are mainly c.1388G>A,c.1376G>T,c.95A>G,871G>A,and accounts for about 90.96%.Conclusions The neonatal G6PD deficiency incidence in Zhuhai is high,and the neonatal hyperbilirubinemia caused by G6PD deficiency is high with gender differences.The hotspot mutation genotypes in this region are c.1388G>A,c.1376G>T,c.95 A>G,871G>A.

关 键 词：葡萄糖6-磷酸脱氢酶缺乏 新生儿高胆红素血症 基因型 

分 类 号：R722.1[医药卫生—儿科]