应用扩增阻滞突变系统（ARMS）检测广东省三种常见的葡萄糖-6-磷酸脱氢酶（G6PD）基因点突变
[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].
作者信息
Du C, Ren X, Jiang Y
机构信息
Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 1999 Apr;20(4):191-3.
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.
目的
检测广东省常见的三种葡萄糖-6-磷酸脱氢酶（G6PD）基因点突变，即G1388A、G1376T和A95G，并估算其大致频率。
方法
采用扩增阻滞突变系统（ARMS）法检测G1388A和G1376T，并使用新开发的ARMS法鉴定A95G突变。
结果
对90例G6PD缺乏男性进行检测，其中42例为G1388A（46.7%），14例为G1376T（15.6%），12例为A95G（13.3%）。90例中共有68例（75.6%）为这三种常见突变。其余属于罕见或未明确的突变。
结论
ARMS法可用于检测G6PD基因的常见突变，具有简便、快速、经济、准确的优点。
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