Simultaneous detection of mutations using SNPscan in a multiethnic minority area of Southwestern China.

Baise, a multiethnic inhabited area of southwestern China, is a historical malaria-endemic area with a high prevalence of deficiency. However, few studies of deficiency have been conducted in this region. Therefore, we performed a genetic analysis of deficiency in the Baise population from January 2020 to June 2021. A SNPscan assay was developed to simultaneously detect 33 common Chinese mutations. 30 -deficient samples were used for the method's validation. Then, a total of 709 suspected -deficient samples collated from the Baise population were evaluated for status, type of mutation and effect of mutations. 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 mutations. A total of fifteen mutations were identified from 76.72% (544/709) of the samples. The most common mutation was discovered to be Kaiping (24.12%), followed by Canton (17.91%), and Gaohe (11.28%). We compared the 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. This study provided a detailed mutation spectrum in Baise of southwestern China and will be valuable for the diagnosis and research of deficiency in this area. Furthermore, the SNPscan assay could be used to quickly diagnose these mutations accurately.