Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

ABSTRACT: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD deficiency among newborn screening population in Wuhan region. A total of 430,806 healthy neonates in Wuhan area of China were screened for G6PD deficiency from November 2016 to December 2021. The positive samples were further detected with gene analysis. Among the 957 neonates with abnormal G6PD enzyme activity, the prevalence of G6PD deficiency in Wuhan was calculated as 0.22%. 38 genotypes were found and the top 5 frequencies of G6PD gene variants were c.1388G > A, c.1376G > T, c.95A > G, c.1024C > T and c.871G > A. Seven rare single variants (c.25C

SUBMITTER: Shen S 

PROVIDER: S-EPMC9533060 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature