应用ARMS法检测广东省常见的三种葡萄糖-6-磷酸脱氢酶基因点突变

Detection of three common G6PD gene point mutations in Guangdong province by using ARMS

目的应用突变特异性扩增系统（ＡＲＭＳ）法筛查广东省常见的葡萄糖６磷酸脱氢酶（Ｇ６ＰＤ）基因的Ｇ１３８８Ａ、Ｇ１３７６Ｔ和Ａ９５Ｇ，并初步估计其频率。方法应用已建立的Ｇ１３８８Ａ和Ｇ１３７６ＴＡＲＭＳ法和新建立的Ａ９５ＧＡＲＭＳ法，对９０例广东地区男性，经Ｇ６ＰＤ定性和定量证明为Ｇ６ＰＤ缺乏者进行检测。结果在９０例男性中检出Ｇ１３８８Ａ４２例（４６７％），Ｇ１３７６Ｔ１４例（１５６％），Ａ９５Ｇ１２例（１３３％），共计７２例（７５６％）。其余为稀有突变和未定型者。结论ＡＲＭＳ法为一种简便、快速、经济、准确的检测Ｇ６ＰＤ基因常见突变的方法。

Objective To detect three common G6PD gene point mutations,G1388A,G1376T and A95G,in Guangdong province and to estimate the approximate frequencies.Methods Using the amplification refractory mutation system(ARMS) method to detect G1388A and G1376T and the newly developed ARMS to identify A95G mutation.Results Ninety cases of G6PD deficient male were examined,and 42 of them were identified to be G1388A(46 7 %),14 G1376T(15 6%),and 12 A95G(13 3%). Totally 68 out of the 90 cases(75 6%) were of the three common mutations.The rest belong to rare or undefined mutations.Conclusion ARMS method can be used in detecting common mutations of G6PD gene with the benefits of simple,fast,economic,and accurate.