关键词: G6PD缺乏症, 基因突变, 多色探针荧光PCR熔解曲线, 分子诊断

Abstract: Objective To analyze the prevalence and the genotypic mutant characteristics of G6PD deficiency in Chengmai area of Hainan province. Methods The G6PD enzyme activity of a total of 1299 subjects consisting of 650 males and 649 females were determined by Zinkham method. All the positive samples were subjected to genotype by a melting curve analysis-based PCR assay for 16 known common mutations in Chinese population. Those samples with no detectable mutantions were sequenced in exons. Results The prevalence of G6PD deficiency in Chengmai area was 5.54% (72/1299). Of 650 males and 649 females tested, 6.62% (43/650) and 4.47% (29/649) were found to have G6PD deficiency, respectively. Of the 72 G6PD deficient subjects genotyped, 61 subjects had mutation. 6 kinds of mutation were indentified including 24 cases of 1376 G>T (33.33%), 19 cases of 1388 G>A (26.39%), 4 cases of 95 A>G (5.56%), 6 cases of 1024 C>T (8.33%), 4 cases of 392 G>T (5.56%), 3 cases of 871 G>A (4.17%), 1 case of 1376 G>T combined with 1388 G>A (1.39%). No any new mutations could detected in the 11 cases of unknown mutations(15.28%). Conclusions The incidence of G6PD deficiency is high in Chengmai area. 1376 G>T and 1388 G>A are the most common variants in this area.

Key words: G6PD deficiency, gene mutation, melting curve analysis-based PCR assay, molecular diagnosis