Frontiers in Genetics (Jan 2024)

Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province

  • Hong-Feng Liang,
  • Yan-Bin Cao,
  • Fen Lin,
  • Yi-Kang Yang,
  • Yi-Kang Yang,
  • Yu-Wei Liao,
  • Wei-Hao Ou,
  • Jin-Ling Chen,
  • Yan-Qing Zeng,
  • Yu-Chan Huang,
  • Guang-Kuan Zeng,
  • Zhi-Xiao Chen,
  • Jing-Wei Situ,
  • Jin-Xiu Yao,
  • Li-Ye Yang

DOI
https://doi.org/10.3389/fgene.2023.1345537
Journal volume & issue
Vol. 14

Abstract

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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.

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