The genotype analysis of glucose-6-phosphate dehydrogenase deficiency in Yunnan province

Objective To identify glucose 6 phosphate dehydrogenase (G6PD) gene mutations in 23 patients with G6PD deficiency and to gain further understanding of the molecular and genetic background of G6PD gene in Yunnan province, China. Methods The mutations located in exons 2 12 and in parts of introns of G6PD gene were analyzed by amplification refractory mutation system(ARMS), natural and mis match primer PCR/restrict enzyme, polymerase chain reaction single strand conformation polymorphism(PCR SSCP) analysis and automatic DNA sequencing. Results Among these 23 samples, 5 different point mutations in G6PD gene were identified, and they constituted 5 genotypes. There were 7 Han and 3 Dai patients with G487A mutation, 7 cases with both intron 11 T93C and C1311T mutations, 4 cases with intron 5 636 or 637 T→del mutation, 1 case with G871A mutation, and 1 case with G487A/T93C/C1311T mutation. Two haplotypes, 93C/1311T and 93C/1311T/487A were identified in Yunnan. A strong association was observed between C1311T and the NlaⅢ restriction site produced by intron 11 T93C. The findings of the investigators on IVS 5 636 or 637T→del in Chinese, on G871A in mainland of China, and on G487A in the Han people of Yunnan have not been reported previously. Conclusion G6PD deficiency is very heterogenous in Yunnan; G487A is one of the common mutations in that province and may be of different origins. Possibly IVS 11 T93C mutation is of non African origin. IVS 11 T93C and C1311T might jointly result in G6PD deficiency. The above data on G6PD gene mutation types could be useful for clinical diagnosis, prevention of G6PD deficiency, and researches in the origin and migration of minorities in Yunnan or other regions.