Objective: To study G6PD gene mutation diversity in Yao and Han people in Guangxi and compare the genotypic frequencies.
Methods: The three common G6PD gene mutations in Chinese were investigated in 34 G6PD deficient individuals from Yao and 37 from Han people by using an amplification refractory mutation system (ARMS).
Results: Among 34 cases of G6PD deficiency of Yao people, the genotypic frequencies of G1376T, G1388A and A95G were 41.2%, 26.5% and 14.7%, respectively. A case of C1311T was detected. As compared with that in Han people, the respective frequencies were 16.2%, 40.6% and 5.4%.
Conclusion: The main G6PD mutations in Yao people were the same with Han people in Guangxi, but G1376T mutation was higher than that in Han people. The C1311T mutation in Yao people in Guangxi was reported for the first time.