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目的 探讨葡萄糖 6 磷酸脱氢酶 (G6PD)基因cDNA1311C→T复合 11内含子 93T→C的突变与G6PD缺乏的关系。方法 运用硝基四氮唑蓝纸片法筛查G6PD患者 ,以定量法确诊 ,运用PCR SSCP筛查 11外显子异常的标本 ,以突变特异性扩增系统 (ARMS)法鉴定 1311C→T突变 ,DNA直接测序 1311突变标本的 11外显子和 11内含子。结果 在 12例 1311突变的标本中 ,在 11内含子的93位均发现有T→C突变。结论 cDNA1311C→T突变同时合并 11内含子的 93位T→C突变可能是G6PD缺乏患者酶活性降低的原因
Objective To investigate the relationship between the mutation of 93T → C in cDNA1311C → T complex 11 in glucose 6 phosphate dehydrogenase (G6PD) gene and G6PD deficiency. Methods The patients with G6PD were screened by nitrotetrazolium blue paper method and diagnosed by quantitative method. The 11 exon samples were screened by PCR SSCP and the 1311C → T mutation was identified by mutation specific amplification system (ARMS) The 11 exons and 11 introns of the 1311 mutant DNA were directly sequenced. Results T-C mutation was found in 93 out of 11 intron in 12 specimens of 1311 mutation. Conclusion The 93 T → C mutation in cDNA1311C → T mutation combined with 11 intron may be the reason of the decrease of enzyme activity in patients with G6PD deficiency