Study on common mutations of G6PD gene in Miao、Shui and Yao ethnic groups

  Objective   A large-scale screening and genotype analysis was held in Miao, Shui and Yao nationalities in Guizhou, to investigate the incidence and molecular characterization of G6PD deficiency of the minorities in Guizhou.

  Methods   2 566 subjects were selected randomly, NBT qualitative and G6PD/6P6D quentitative methods were used to detect G6PD deffciency in them.

  Results   175 G6PD deficiency samples were found.In Miao nationality 7 cases of G1388A, 1 case of G1376T, 6 cases of A95G, 8 cases of C1024T were detected; In Shui nationality 12 cases of G1388A, 24 cases of G1376T, 9 cases of A95 G and 2 cases of C1024T were detected; In Yao nationality 15 cases of G1388A, 7 cases of G1376T were detected.

  Conclusion   G6PD G1388A, G1376T mutations were detected in Miao, Shui and Yao nationalities.The study of G6PB gene mutations in Guizhou minorities may provided primary useful data for understanding the distribution of G6PD deficiency in Guizhou.