ABSTRACT
OBJECTIVE: To analyze the characteristics of gene mutations of glucose-6-phosphate dehydrogenase(G6PD)deficiency in the neonates of Zhejiang Province,and discuss the genetic diversity. METHODS: A total of 2242G6PD values and blood stains on dry filter were collected from the children borned in Zhejiang Province with positive screening of G6PD deficiency between March 2015 and September 2017 in Neonatal Metabolic Screening Center of Zhejiang Province. Genomic DNA of the stains were extracted. Thirty-five gene mutation sites were detected by Mass ARRAY technology. The relationship between mutation gene sites and G6PD activity were analyzed by SPSS 22.0,taking PT,c.1388G>A,c.1024C>T,c.95 A>G,c.871G>A and c.392G>T accounted for 92.96%. There were statistically significant differences in G6PD activity of c.1376 G>T,c.1388G>A,c.1024 C>T,c.95A>G(PT has obvious regional characteristics. Using MassARRAY technology to detect specific mutation sites can be a choice as a second-level screening method for G6PD deficiency.