[Identification of three common G6PD gene mutations in Yi minority in Yunnan province].

OBJECTIVE

To identify three common G6PD gene mutations in Yi minority in Yunnan province.

METHODS

G6PD gene mutation of 28 samples from G6PD deficient patients was detected by using amplification refractory mutation system(ARMS). Samples were collected from Yi minority in Yunnan province.

RESULTS

In 28 cases, 22 were identified to be three known mutations, including 12 of 1388(G-->A), 9 of 1376(G-->T) and 1 of 95(A-->G). The remaining 6 cases were undefined.

CONCLUSIONS

This is the first report of G6PD gene G1376T and A95G mutations in Yi minority. The three common mutations account for 78.6% of the 28 cases.