AUTHOR=Wei Huagui , Wang Chunfang , Huang Weiyi , He Liqiao , Liu Yaqun , Huang Huiying , Chen Wencheng , Zheng Yuzhong , Xu Guidan , Lin Liyun , Wei Wujun , Chen Weizhong , Chen Liying , Wang Junli , Lin Min 

TITLE=Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1000290

DOI=10.3389/fgene.2022.1000290

ISSN=1664-8021

ABSTRACT=<p><bold>Objectives:</bold> Baise, a multiethnic inhabited area of southwestern China, is a historical malaria-endemic area with a high prevalence of <italic>G6PD</italic> deficiency. However, few studies of <italic>G6PD</italic> deficiency have been conducted in this region. Therefore, we performed a genetic analysis of <italic>G6PD</italic> deficiency in the Baise population from January 2020 to June 2021.</p><p><bold>Methods:</bold> A SNPscan assay was developed to simultaneously detect 33 common Chinese <italic>G6PD</italic> mutations. 30 <italic>G6PD</italic>-deficient samples were used for the method’s validation. Then, a total of 709 suspected <italic>G6PD</italic>-deficient samples collated from the Baise population were evaluated for <italic>G6PD</italic> status, type of mutation and effect of mutations.</p><p><bold>Results:</bold> The SNPscan test had a sensitivity of 100% [95% confidence interval (CI): 94.87%–100%] and a specificity of 100% (95% CI: 87.66%–100%) for identifying <italic>G6PD</italic> mutations. A total of fifteen mutations were identified from 76.72% (544/709) of the samples. The most common mutation was discovered to be <italic>G6PD</italic> Kaiping (24.12%), followed by <italic>G6PD</italic> Canton (17.91%), and <italic>G6PD</italic> Gaohe (11.28%). We compared the <italic>G6PD</italic> mutation spectrum among Zhuang, Han and other Southeast Asian populations, and the Zhuang population’s mutation distribution was quite similar to that in the Han population.</p><p><bold>Conclusion:</bold> This study provided a detailed <italic>G6PD</italic> mutation spectrum in Baise of southwestern China and will be valuable for the diagnosis and research of <italic>G6PD</italic> deficiency in this area. Furthermore, the SNPscan assay could be used to quickly diagnose these <italic>G6PD</italic> mutations accurately.</p>