关键词: 葡糖磷酸脱氢酶缺乏, 基因, 突变, 高通量核苷酸序列分析, 婴儿, 新生

Abstract:

Objective: To carry out the screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns in Shijiazhuang City, and to further analyze the mutations of disease genes.Methods: The heel blood of 237 312 newborns born in Shijiazhuang City, from September 2018 to November 2020, was collected and made the dried blood spots on filter paper. G6PD activity was screened by fluorescence method, and the suspected children were analyzed further by gene sequencing. Results: Among 237 312 newborns, 142 cases were positive and 114 cases were confirmed. The prevalence rate was 0.05%. Among the 114 children, 105 were males, accounting for 92.1%. The average screening result (range) was 1.8 (0.4~3.7) U/g Hb; 9 cases were female, accounting for 7.9%, the average screening result (range) was 2.9 (1.8~4.0) U/g Hb. 56 of 114 children underwent genetic diagnosis (the family members of the other 58 children refused to perform genetic diagnosis). The genetic test showed that all of 56 children had heterozygous mutations. The analysis of mutation sites revealed 19 types of mutations, of which 16 have been reported, c.1376G>T, c.1024C>T, c.1388G>A, c.871G>A, c.95 A>G, c.487 G>A, c.1478 G>A, c.406 C>T, c.577 G>A, c.925A>T, c.185 A>G, c.961 G>A, c.482 G>T, c.653 C>T, c.392 G>T, c.1466 G>T; 3 kinds have not been reported, respectively c.1316 G>A, c.575G>C, c.1400 C>T. The higher mutation frequencies were c.1376G>T (0.25), c.1024C>T (0.16) and c.1388G>A (0.14).Conclusions: The prevalence of G6PD deficiency was preliminarily clarified as 0.05% in newborns in Shijiazhuang area. The distribution of gene mutation sites was further clarified. Three unreported gene mutations were discovered, which enriched the database of gene mutations of G6PD deficiency.

Key words: Glucosephosphate dehydrogenase deficiency, Genes, Mutation, High-throughput nucleotide sequencing, Infant, newborn