Jiang W, Du C, Duan S, Ma L, Yang L, Liu C, Chen L, Lin Q
Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou, 510089 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Jun;16(3):149-52.
In order to understand the molecular evolution, race origin and the relationship between the G6PD gene structure and clinical symptoms, the authors identified the molecular characterization of glucose-6-phosphate dehydrogenase and determined the G6PD gene frequency in four ethnic groups in Yunnan province of China.
The point mutations of G6PD were detected by Mismatch-PCR/RE, SSCP,ARMS,DNA sequence and so on. G6PD gene frequency was determined by Hardy-Weinberg Law.
G6PD G1388A, G1376T,A95G mutations were determined in Bai and Dai people for the first time and G1388A also in Harni people by DNA sequence. G6PD C1024T were detected in Dai population by Mismatch-PCR/RE. The gene frequency of G6PD in Bai population in Dali city is 0.0113, and the incidence is 1.19% which are different from those in Dai population.
G6PD G1388A,G1376T, A95G and C1024T are the mutations in national minorities as well as in the Han people. The results suggest that different national minorities of China may have the same ancestor. The incidence of G6PD deficiency and the G6PD gene frequency in Bai population are different from those in Dai population. The distribution of G6PD deficiency in Yunnan is associated with the distribution of malaria epidemic in that province.
为了解葡萄糖-6-磷酸脱氢酶（G6PD）的分子进化、种族起源以及基因结构与临床症状的关系，作者鉴定了葡萄糖-6-磷酸脱氢酶的分子特征，并测定了中国云南省四个民族的G6PD基因频率。
采用错配PCR/RE、SSCP、ARMS、DNA测序等方法检测G6PD的点突变。根据哈迪-温伯格定律确定G6PD基因频率。
通过DNA测序首次在白族和傣族人群中检测到G6PD G1388A、G1376T、A95G突变，哈尼族人群中也检测到G1388A突变。通过错配PCR/RE在傣族人群中检测到G6PD C1024T突变。大理市白族人群中G6PD基因频率为0.0113，发病率为1.19%，与傣族人群不同。
G6PD G1388A、G1376T、A95G和C1024T突变在少数民族和汉族人群中均存在。结果表明中国不同少数民族可能有共同的祖先。白族人群中G6PD缺乏症的发病率和G6PD基因频率与傣族人群不同。云南省G6PD缺乏症的分布与该省疟疾流行的分布有关。
