Analysis of glucose-6-phosphate dehydrogenase gene mutation in newborns of Hainan Province / 中华地方病学杂志

ABSTRACT

Objective To investigate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) gene mutation in newborns of Hainan Province,and to provide reference for prevention and treatment of G6PD deficiency in this region.Methods Neonatal disease screening filter paper dry blood spots from all midwifery agencies were collected in 18 cities (counties) in Hainan Province from January to June 2016,G6PD activity screening test was conducted at Neonatal Disease Screening Center,Hainan Women and Children's Medical Center,and the enzyme activity was normal when fluorescence value ＞ 1 600,and enzyme deficiency when fluorescence value ≤ 1 600.Referred to "China's Major Birth Defects and Genetic Diseases Survey and Biological Resources Collection",women newborns (3 371 cases) with fluorescence values ≤2 200 and men newborns (1 620 cases) with fluorescence values ≤ 1 700 were included in the study.Molecular screening was performed using multicolor melting curve analysis (MMCA),and the distribution and mutation characteristics of G6PD gene mutants were analyzed.Results Among the 4 991 newborns,2 111 cases with G6PD gene mutation,and the detection rate was 42.30％ (2 111/4 991).A total of 27 G6PD gene mutants were found,including 14 single mutants and 13 composite mutants.The mutation detection rates of c.1376 G＞T (21.42％,1 069/4 991),c.1388 G＞A (11.54％,576/4 991),c.95 A＞G (2.40％,120/4 991) and c.871 G＞A (2.24％,112/4 991) were higher.The mutation detection rate (61.54％,136/221) of Baisha County (inland area) was the highest,and the mutation detection rate (22.15％,64/289) of Wenchang City (coastal area) was the lowest.The mutation detection rate (49.88％,628/1 259) of the Li nationality was the highest.A total of 873 female heterozygotes were detected,including 13 gene mutants,of which 44.67％ (390/873) with normal enzyme activity.The c.86 C＞T heterozygous mutation was first detected in a sample of Li female with normal enzyme activity.Conclusions Hainan Province is the high incidence area of G6PD gene mutation,the most common mutations are c.1376 G＞T,c.1388 G＞A,c.95 A＞G and c.871 G＞A in newborns.Inland area is the high incidence area,and Li nationality is the high incidence population.