贵州江口土家族男性葡萄糖-6-磷酸脱氢酶缺陷症的基因频率调查

目的 调查贵州省江口土家族男性葡萄糖-6-磷酸脱氢酶（G6PD）缺陷症的基因频率。方法 2002年10-11月随机选取227名江口当地土家族男性居民，采用四氮唑蓝（NBT）纸片定性法初筛G6PD缺陷症。G6PD／6PGD比值法定量确诊。结果 对贵州省江口县227名土家族男性进行筛查，共检出17例G6PD缺陷阳性。其基因频率为0．0749。结论 通过对贵州土家族G6PD缺乏症基因频率的调查和分析，初步了解了贵州省土家族G6PD缺乏症的分布特征。为该地区预防该疾病、指导临床、提高少数民族的素质及研究该民族起源提供了一定的依据。

Investigation into G6PD deficiency gene frequency in Tujia nationality in Jiangkou, Guizhou.

Objective The frequency of G6PD deficiency in the Tujia nationality in Jiangkou, Guizhou was investigated. Methods In Oct. 2002, 227 male subjects were selected randomly from the local people, and NBT qualitative and G6PD/6PGD quantitative methods were used to detect C,6PD deficiency in them, Results Among the 227 subjects, 17 cases of G6PD deficiency were found. The gene frequency of G6PD deficiency was 0. 0749. Conclusion There is a high incidence of G6PD deficiency in Tujia nationality in Jiangkou, Guizhou. The investigation will illustrate the distribution of G6PD deficiency in Guizhou, and provide some useful data for the preventing G6PD deficiency, directing clinical management, improving minority population diathesis and studying the origin of Tujia nationality.