[The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province].
OBJECTIVE
To analyze the types and distribution of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Yunnan province.


METHODS
By using the natural primers or mis-matched primers mediated polymerase chain reaction (PCR) followed by endonuclease digestion methods, six types of G6PD gene mutations, G1388A, G1376T, C1024T, G392T, C592T and A95G were in sixty patients with G6PD deficiency.


RESULTS
Six types of mutation were revealed: 28.3% (17 of 60) were G1388A, 11.7% (7 of 60) G1376T, 6.7% (4 of 60) C1024T, 1.7% (1 of 60) G392T, 1.7% (1 of 60) C592T, 1.7% (1 of 60) A95G and 48.3% (29 of 60) unidentified. C592T mutation is the first report in Yunnan people.


CONCLUSIONS
The G6PD gene in Yunnan people is heterogeneous. Research of G6PD gene mutation types may provide some useful data for clinical diagnosis and prevention of G6PD deficiency, and for human genetic study.
Yang
Z
Z
Institute of Medical Biology, CAMS & PUMC, Kunming 650118, China.
Chu
J
J
Xu
S
S
Lin
K
K
Tao
Y
Y
Shi
L
L
D019943:Amino Acid Substitution; D002681:China; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D004247:DNA; D005954:Glucosephosphate Dehydrogenase; D015252:Deoxyribonucleases, Type II Site-Specific; C024403:GGCC-specific type II deoxyribonucleases