AUTHOR=Liang Hong-Feng , Cao Yan-Bin , Lin Fen , Yang Yi-Kang , Liao Yu-Wei , Ou Wei-Hao , Chen Jin-Ling , Zeng Yan-Qing , Huang Yu-Chan , Zeng Guang-Kuan , Chen Zhi-Xiao , Situ Jing-Wei , Yao Jin-Xiu , Yang Li-Ye
TITLE=Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province
JOURNAL=Frontiers in Genetics
VOLUME=14
YEAR=2024
URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1345537
DOI=10.3389/fgene.2023.1345537
ISSN=1664-8021
ABSTRACT=Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region.
Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants.
Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population.
Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition.