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目的将突变特异性扩增系统（ＡＲＭＳ）法引入葡萄糖６磷酸脱氢酶（Ｇ６ＰＤ）Ｃ１３１１Ｔ突变型的检测，并利用它调查Ｃ１３１１Ｔ在正常人群中的发生频率，探讨此突变伴发的ＩＶＳ１１Ｃ９３Ｔ是否与酶活性降低有关。方法测序检测Ｇ６ＰＤ缺乏症患者中的Ｃ１３１１Ｔ突变，利用已证实为Ｃ１３１１Ｔ标本探索Ｃ１３１１Ｔ的ＡＲＭＳ检测法最佳条件，用此法来确定中国人中Ｃ１３１１Ｔ的发生频率。再利用测序探讨ＩＶＳ１１Ｃ９３Ｔ是否是某些病例酶活性降低的原因。结果在４０例Ｇ６ＰＤ缺乏症患者中检测到４例Ｃ１３１１Ｔ突变，摸索了Ｃ１３１１ＴＡＲＭＳ法检测的最佳条件。在１０３名正常男性中检测到１９名Ｃ１３１１Ｔ。对３名具有Ｃ１３１１Ｔ的Ｇ６ＰＤ缺乏症标本进行了Ｇ６ＰＤＩＶＳ１１测序，在９３位均为正常碱基Ｃ。同时检测到１份正常标本的ＩＶＳ１１的９３位为Ｔ。结论ＡＲＭＳ法是一种简单、省时、准确的筛查Ｇ６ＰＤ基因已知点突变的方法，Ｃ１３１１Ｔ在中国南方正常人群中的发生频率为１８４％，ＩＶＳ１１Ｃ９３Ｔ不是Ｃ１３１１Ｔ伴ＩＶＳ１１Ｃ９３Ｔ病例酶活性降低的原因，它极可能为Ｇ６ＰＤ基因的另一多态性位点。
OBJECTIVE: To introduce the mutation-specific amplification system (ARMS) method into the detection of C1311T mutant of glucose-6-phosphate dehydrogenase (G6PD) and to investigate the frequency of C1311T in normal population and to explore the relationship between IVS 11C93T whether the decrease of enzyme activity. Methods The C1311T mutation in patients with G6PD deficiency was detected by sequencing. The optimal conditions of C1311T ARMS assay were confirmed by C1311T, and the frequency of C1311T in Chinese was determined by this method. Reuse sequencing to investigate whether IVS 11C93T is the cause of decreased enzyme activity in some cases. Results Four cases of C1311T mutation were detected in 40 patients with G6PD deficiency and the optimal conditions for C1311TARMS assay were explored. Ninety-three C1311Ts were detected in 103 normal men. G6PDIVS-11 was sequenced on 3 specimens of G6PD deficiency with C1311T, all of which were normal base C at position 93. At the same time, a normal specimen was detected in 93 of IVS-11. Conclusion The ARMS method is a simple, time-saving and accurate method for screening known point mutations of G6PD gene. The frequency of C1311T in the normal population in southern China is 18.4%. The IVS-11C93T is not C1311T with IVS-11C93T The reason for the decreased activity of the enzyme is that it is highly likely to be another polymorphic site of the G6PD gene.