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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS]
1Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.
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.
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