广西瑶族与汉族葡萄糖-6-磷酸脱氢酶基因三种常见突变型对比分析

Comparative study of three common G6PD gene mutations in Yao and Han People in Guangxi

目的 研究广西瑶族葡萄糖 6 磷酸脱氢酶 (G6PD)基因突变特点 ,并与汉族作比较。方法 用突变特异性扩增系统 (ARMS)法对广西瑶族 34例和汉族 37例G6PD缺乏者进行中国常见的三种G6PD基因突变型筛查。结果 广西 34例瑶族G6PD缺乏者的基因型分别为G1376T 14例(41 2 % ) ,G1388A 9例 (2 6 .5 % ) ,A95G 5例 (14.7% ) ,C1311T 1例 (2 .9% )。而与之相距 2 0 0km的玉林市 37例汉族G6PD缺乏者中 ,G1376T占 16 .2 % ,G1388A占 40 .6 % ,A95G占 5 .4%。结论 广西瑶族G6PD突变类型与汉族相同 ,但G1376T突变型高于汉族。首次发现广西瑶族中有C1311T突变。

Objective To study G6PD gene mutation diversity in Yao and Han people in Guangxi and compare the genotypic frequencies. Methods The three common G6PD gene mutations in Chinese were investigated in 34 G6PD deficient individuals from Yao and 37 from Han people by using an amplification refractory mutation system (ARMS). Results Among 34 cases of G6PD deficiency of Yao people, the genotypic frequencies of G1376T, G1388A and A95G were 41.2%, 26.5% and 14.7%, respectively. A case of C1311T was detected. As compared with that in Han people, the respective frequencies were 16.2%, 40.6% and 5.4%. Conclusion The main G6PD mutations in Yao people were the same with Han people in Guangxi, but G1376T mutation was higher than that in Han people. The C1311T mutation in Yao people in Guangxi was reported for the first time.