阳江地区女性G6PD缺乏症筛查及基因突变分析OA

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.