[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].

OBJECTIVE

To detect three common G6PD gene point mutations, G1388A, G1376T and A95G, in Guangdong province and to estimate the approximate frequencies.

METHODS

Using the amplification refractory mutation system(ARMS) method to detect G1388A and G1376T and the newly developed ARMS to identify A95G mutation.

RESULTS

Ninety cases of G6PD deficient male were examined, and 42 of them were identified to be G1388A(46.7%), 14 G1376T(15.6%), and 12 A95G(13.3%). Totally 68 out of the 90 cases(75.6%) were of the three common mutations. The rest belong to rare or undefined mutations.

CONCLUSION

ARMS method can be used in detecting common mutations of G6PD gene with the benefits of simple, fast, economic, and accurate.