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目的 :研究昆明地区葡萄糖 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)和错配扩增酶切法 ,检测 76例昆明地区G6PD缺乏症患者中G1376T、G1388A、A95G、C10 2 4T、G392T、C5 92T 6种G6PD基因突变类型。结果 :76例中共检出 5种G6PD基因突变类型 ,其中G1388A 2 1例 (2 7 6 % )、G1376T 17例 (2 2 4% )、C10 2 4T 3例 (3 9% )、A95G 2例 (2 6 % )、G392T 1例 (1 3% )、未知突变 32例 (42 1% )。结论 :昆明地区G6PD缺陷具有明显异质性 ,G6PD基因突变类型具有地区特点。对基因突变的研究 ,有利于G6PD缺陷症的临床诊断、防治以及人类进化研究。
Objective: To study the gene mutation in patients with G6PD deficiency in Kunming. Methods: Six G6PD gene mutations of G1376T, G1388A, A95G, C10 2 4T, G392T and C5 92T were detected in 76 cases of G6PD deficiency in Kunming by mutation-specific amplification system (ARMS) Types of. Results: Five types of G6PD gene mutations were detected in 76 cases, of which G1388A 2 (27.6%), G1376T 17 cases (22.4%), C10 2 4T 3 cases (39%) and A95G 2 cases (26%), G392T in 1 case (13%) and unknown mutation in 32 cases (42%). Conclusion: The G6PD deficiency in Kunming area has obvious heterogeneity, and the genotype of G6PD mutation has regional characteristics. The study of gene mutation is conducive to the clinical diagnosis, prevention and treatment of G6PD deficiency and human evolution.