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目的研究长沙地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的基因突变型。方法应用突变特异性扩增系统(ARMS)方法,检测168例长沙地区G6PD缺乏症患者中的G1376T、G1388A、A95G三种G6PD基因突变类型。结果168例中检出G1388A37人(22.0%),G1376T74人(44.0%),A95G45人(26.8%),未知突变12人(7.1%)。结论G1376T、G1388A、A95G为长沙地区最常见和最具有特征性的G6PD缺乏基因突变类型,且G1376T、A95G二型突变占的比例较G1388A高。G6PD基因突变类型具有地区特点、具有种族和地区异质性,对基因突变的研究有利于G6PD缺乏症的临床诊断、防治以及人类进化研究。
Objective To investigate the gene mutation in patients with G6PD deficiency in Changsha area. Methods The mutation types G1376T, G1388A and A95G of G6PD deficiency in 168 cases of Changsha were detected by mutation specific amplification system (ARMS). Results G1388A37 (22.0%), G1376T74 (44.0%), A95G45 (26.8%) and unknown mutation 12 (7.1%) were detected in 168 cases. Conclusions G1376T, G1388A and A95G are the most common and most characteristic G6PD-deficient mutations in Changsha, and G1376T and A95G type II mutations accounted for a higher proportion than G1388A. G6PD gene mutations have regional characteristics, with ethnic and regional heterogeneity, gene mutation research is conducive to the clinical diagnosis, prevention and treatment of G6PD deficiency and human evolution.