Neonatal Screening And Gene Mutation Analysis Of G6PD Deficiency

Objective:Glucose-6-phosphate dehydrogenase deficiency(G6PD)is one of the common genetic diseases in newborns,caused by G6 PD gene mutation.In view of the lack of the regional characteristics of G6 PD deficiency in Zhejiang,this article intends to investigate the neonatal screening and gene mutation of G6 PD deficiency in this area,in order to provide reference for the screening,diagnosis and treatment of the disease.Methods:All cases of G6 PD deficiency were screened and diagnosed by Zhejiang Neonatal Genetic and Metabolism Screening Center from March 2015 to September 2017.The genomic DNA of 2242 cases of blood spots was extracted and 35 G6 PD mutation sites were detected by Mass ARRAY technique.The gene detection results of 2242 children were recorded,and the data of sex,gestational age,birth weight,mother’s age,G6 PD activity and household registration were collected.Results:(1)Prevalence of G6 PD deficiency: The overall prevalence rate is 0.22%.Male(0.38%)was higher than female(0.04%)(P<0.001).The incidence of children with gestational age less than 34 weeks(0.14%)was lower than other groups(0.22%)(P=0.029).There was no statistical difference between the incidence of children with different birth weight(P=0.254).The incidence rate of children whose mother’s childbearing age was less than or equal to 18 years old(0.32%)was higher than that of other groups(P=0.002).The rate varied from city to city(P<0.001).(2)Detection of G6 PD gene mutation: 21 mutation sites were detected.92.96% of the G6 PD mutations were c.1376G>T、c.1388G>A、c.1024C>T、c.95A>G、c.871G>A、c.392G>T.There were significant differences in G6 PD activity among c.1376G>T、c.1388G>A、c.1024C>T、c.95A>G genotypes(P<0.001).(3)G6PD mutation distribution: The most common mutation genotypes of G6 PD deficiency in Zhejiang local population were c.1376G>T、c.1388G>A、c.1024C>T,while c.1388G>A、c.1376G>T、c.95A>G in foreign personnel.The detection rate of c.1024C>T(20%)in Huzhou and c.871G>A(12.99%)in Lishui was the highest.The detection rates of c.406C>T(3.45%)and c.1004C>A(3.31%)in Wenzhou were higher than those in other cities.Conclusions:(1)The prevalence rate of neonatal G6 PD deficiency in Zhejiang was 0.38% for males and 0.04% for females.The prevalence rate was the highest in Lishui and the lowest in Zhoushan.(2)c.1376G>T、c.1388G>A、c.1024C>T were the top three mutation hotspots of G6 PD deficiency in Zhejiang area,in which the mutation frequency of c.1024C>T had obvious regional characteristics.(3)The G6 PD mutation types were different in local population and non-local population.There were differences in gene types between different cities in Zhejiang.(4)The gene suggested that the homozygote/compound heterozygote in female patients with G6 PD enzyme deficiency is 1:5.46,and the severity of G6 PD enzyme activity deficiency in female homozygote/compound heterozygote was similar to that in male hemizygote.