关键词: G6PD缺乏症, 基因突变类型, 儿童

Abstract: Abstract：Objective：To investigate mutations in the Glucose-6-phospate dehydrogelmse(G6PD)gene among G6PD-deficient children in GanZhou and make benefits for the prevention and treatment of G6PD deficiency．Methods：The amplification refractory mutation system (ARMS)was used to detect gene point mutation in seventy two G6PD-deficient patients that had been diagnosed by using metahemoglobin return to original state experiment．Results：Of the forty G6PD deficiency sample，28 cases was found carrying the G1388A mutation．10 the G1376T mutation and 3 the A95G mutation for 38.9%，13.9% and 4.7% ，respectively．The other 31 cases were not detected carrying the three mutations．All these genotypes probably resulted in severe G6PD activity deficiency and had severe clinical manifestation. Conclusion：G1388A，G1376T，and A95G were the common mutations in G6PD-deficient individuals in GanZhou．

Key words: Key words：G6PD, Gene mutation, Children