[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.


CONCLUSIONS
ARMS method can be used in detecting common mutations of G6PD gene with the benefits of simple, fast, economic, and accurate.
Du
C
C
Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.
Ren
X
X
Jiang
Y
Y
D000483:Alleles; D044466:Asian People; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
D005954:Glucosephosphate Dehydrogenase