[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.
He
Y
Y
Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.
Chen
Q
Q
Zhang
Z
Z
D000483:Alleles; D044466:Asian People; D002681:China; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000208:ethnology / 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