昆明地区葡萄糖-6-磷酸脱氢酶基因突变型研究

Gene mutation of glucose-6-phosphate dehydrogenase found in Kunming,Yunnan province.

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。

To detect the mutations of glucose-6-phosphate dehydrogenase(G6PD) gene in Kunming,Yunnan province.Methods:The G6PD gene mutations G1388A,G1376T and A95G were detected by amplification refractory mutation system(ARMS),and C1024,G392T,C592T were detected by mis-matched primers mediated polymerase chain reaction(PCR)followed by endonuclease digestion method.Result:Seventy-six patients with G6PD deficiency were examined,and 21 of them wre identified to be G1388A(27.6%),17 G1376T(22.4%),3 C1024(3.9%),2A95G(2.6%),and 1 G392T(1.3%),44 of 76 cases (57.9%) were of th five mutations,32 (42.1%)belong to unidentified.Conclusions:The G6PD gene is very heterogenous with several mutation already identified in Kunming district,Yunnan provinec.,and kunming is an area with special distributive features of G6PD gene mutation types. The research of G6PD gene mutation may be useful for diagnosis and prevention of G6PD deiciency,and it provide more information for the evolution of human being.