中外医学研究2026，Vol.24Issue(13)：37-40,4.DOI:10.14033/j.cnki.cfmr.2026.13.008
阳江地区女性G6PD缺乏症筛查及基因突变分析
Screening and Genetic Mutation Analysis of G6PD Deficiency in Females in Yangjiang Region
黎杨杨 1陈金玲 1曾琬 1许秋桂 1陈冬玲1
作者信息
- 1. 阳江市人民医院 广东 阳江 529500
- 折叠
摘要
Abstract
Objective:To investigate the prevalence,enzyme activity distribution,and mutation spectrum of glucose-6-phosphate dehydrogenase(G6PD)deficiency in females from the Yangjiang Region,Guangdong Province.Method:A cross-sectional study was conducted on 4 730 clinical samples collected by Yangjiang People's Hospital from January 2022 to December 2023.G6PD enzyme activity screening was performed,and 278 female specimens with enzyme activity below 2 000 U/L were further analyzed for G6PD gene mutations.Result:The overall detection rate of G6PD deficiency in 4 730 clinical samples was significantly lower than that in males,and the difference was statistically significant(P<0.05).Enzyme activity analysis showed that female deficiency was mainly concentrated in the mild deficiency range of 601~1 300 U/L,while male deficiency was concentrated in the moderate deficiency range of 201~600 U/L.The results of genetic testing indicated that the total mutation detection rate of female samples increased with the decrease of enzyme activity.A total of 8 single mutations and 12 compound mutations were identified,among which c.1388G>A,c.1376G>T,c.1311C>T and c.95A>G were the most important mutation types.Conclusion:G6PD deficiency in females in Yangjiang Region is characterized by mild enzyme activity abnormalities and a diverse mutation spectrum.The variants c.1388G>A,c.1376G>T,c.1311C>T,and c.95A>G are the most common pathogenic mutations in this population.The strong correlation between enzyme activity and mutation detection underscores the clinical importance of genetic testing in individuals with low enzyme activity.关键词
葡萄糖-6-磷酸脱氢酶缺乏症/阳江/酶活性/基因突变/基因检测/横断面研究Key words
Glucose-6-phosphate dehydrogenase deficiency/Yangjiang/Enzyme activity/Gene mutation/Genetic testing/Cross-sectional study引用本文复制引用
黎杨杨,陈金玲,曾琬,许秋桂,陈冬玲..阳江地区女性G6PD缺乏症筛查及基因突变分析[J].中外医学研究,2026,24(13):37-40,4.
