山西医科大学学报2025，Vol.56Issue(12)：1393-1397,5.DOI:10.13753/j.issn.1007-6611.2025.12.010
内蒙古地区新生儿G6PD缺乏症筛查及基因突变谱特征分析
Neonatal G6PD deficiency screening and gene mutation profiles in Inner Mongolia
摘要
Abstract
Objective To investigate the incidence and the gene mutation characteristics of glucose-6-phosphate dehydrogenase(G6PD)deficiency in Inner Mongolia for providing scientific evidence for formulating targeted preventive healthcare strategies.Methods G6PD concentration in 31 022 neonates was detected using fluorescence quantitative assay.For individuals with abnormal indicators,the gene sequencing analysis was conducted.By comparing the genetic profiles with those from high-incidence regions such as Guang-dong and Guangxi,the incidence and the specificity in Inner Mongolia were investigated.Results The overall incidence of G6PD deficiency in this study was 0.02%,with a positive rate of 0.23%(38/16 199)in male infants and 0.11%(16/14 823)in female infants.The positive rate in male infants was significantly higher than that in female infants(P<0.05).A total of four mutation types were detected by gene mutation spectrum analysis,of which,c.1388G>A(50.00%)was the predominant mutation type,followed by c.1376G>T,c.1360C>T,and c.95A>G.The mutation spectrum showed regional specificity,with a higher proportion of c.1388G>A in Inner Mon-golia than in Meizhou Hakka area of Guangdong(36.41%)and Liuzhou area of Guangxi(34.87%),and the infants with c.1388G>A had the lowest enzyme activity.Performance evaluation of the screening methods showed that the positive predictive value of the fluo-rescence quantitative assay was lower than that in Meizhou and Liuzhou,but the recall rate was lower.Conclusion The incidence of G6PD deficiency in Inner Mongolia is gender-specific,and the gene mutation types show regional distribution characteristics.关键词
G6PD缺乏症/新生儿筛查/基因突变谱/发病率/性别差异/地域特异性Key words
G6PD deficiency/newborn screening/mutation spectrum/incidence/gender differences/regional specificity分类
医药卫生引用本文复制引用
KANG Wenguang,ZHU Bo,GAO Na,ZHANG Meiling,WANG Yan,QIN Lei,HOU Dongxia..内蒙古地区新生儿G6PD缺乏症筛查及基因突变谱特征分析[J].山西医科大学学报,2025,56(12):1393-1397,5.基金项目
内蒙古自治区科技计划项目(2021GG0130) （2021GG0130）
