Analysis on Gene Mutation of 233 neonates with Glucose-6-phosphate dehydrogenase deficiency in Zhangzhou

Objective The aim of the study is to investigate the mutation types and their incidence of the glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates of Zhangzhou.Methods Neonates who were born in Zhangzhou area were screened for G6 PD deficiency by fluorescence spot test.233 positive cases in preliminary screening of G6 PD deficiency was detected common sites by Massarray method.Sanger sequencing was used to identify gene mutation types in samples that common mutation was not detected.Results Among the 46540 cases in Zhangzhou,1415 samples were found G6 PD deficiency in preliminary screening,The positive rates of males and females were 4.31%(1077/24947) and 1.57%(338/21593) respectively,and the difference was statistically significant (P<0.05).Among the 233 G6 PD deficiency positive cases in preliminary screening,10 kinds of mutation were found by Massarray method:c.1376 G > T (102 cases),c.1388 G > A (40 cases),c.871 G > A (11 cases),c.1024 C > T (10 cases),c.392G> T (9 cases),c.95 A > G (7 cases),c.1360 C > T (4 cases),c.487 G > A (3 cases),c.1004 C > T (1 case),c.563 C > T (1 case),c.1024 C > T combined with c.1376 G > T (1 case),c.1376 G > T combined with c.1388 G > A (1 case),and 4 additional mutations was found by Sanger sequencing:c.305 T > C (2 cases),c.187 G > A (1 case),c.77 G > T (1 case),c.486-34 del T (4 cases).No mutation was found in the other 35 neonates.Conclusion In this study,14 kinds mutation of G6 PD were found,c.1376 G > T and c.1388 G > A accounted for 71.72% and were the most common mutations in Zhangzhou area.c.305 T > C and c.187 G > A are novel mutations,which is the first study to report in G6 PD deficiency.