[G6PD gene mutations in Guangxi, China].

OBJECTIVE

Fifty-six G6PD-deficient male individuals of the Guangxi origin were investigated at the molecular level to understand the basis of G6PD deficiency.

METHODS

PCR amplified the exons 2,5,6,7,8, 10,11,12 and 13 of the G6PD gene respectively, combined with ASO dot blot hybridization and restriction enzymes digestion methods to screen 10 common Chinese G6PD mutations.

RESULTS

Six mutations were detected, namely cDNA1376(G-->T)(25.0%), cDNA1388(G-->A)(16.1%), cDNA95(A-->G)(19.8%), cDNA592 (C-->T)(7.1%), cDNA1024(C-->T)(1.8%) and cDNA392(G-->T) (1.8%). The unknown mutations accounted for 28.6%. cDNA1311(C-->T),cDNA1360(C-->T),cDNA835(A-->T), cDNA493(A-->G) and cDNA487(G-->A) were not discovered among the cases.

CONCLUSION

The findings may provide some useful informations for physician scientists to get insight into the pathogenesis of G6PD deficiency so as to improve clinical diagnosis, prevention and cure of G6PD deficiency. The results may be of significance in anthropology and geneties as well.