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目的通过鉴定云南省白族、傣族等少数民族中的Ｇ６ＰＤ基因突变型，统计大理市白族Ｇ６ＰＤ缺乏症发生率及基因频率，以了解分子进化和民族起源，并为Ｇ６ＰＤ缺乏症的防治提供理论依据。方法用错配碱基ＰＣＲ／ＲＥ、ＰＣＲ－ＳＳＣＰ、ＡＲＭＳ法和ＤＮＡ序列分析等检测Ｇ６ＰＤ基因点突变。结果经ＤＮＡ序列分析确认，首次在白族人群中发现Ｇ６ＰＤＧ１３８８Ａ，发生率４２％、Ｇ１３７６Ｔ发生率２１％、Ａ９５Ｇ发生率６％；在傣族中发现Ｇ１３８８Ａ，发生率６２％、Ｇ１３７６Ｔ发生率２３％；在哈尼族中发现Ｇ１３８８Ａ１例；在景颇族中发现Ｇ１３８８Ａ１例。用ＰＣＲ／ＲＥ法初步鉴定了１例傣族Ｃ１０２４Ｔ突变型，发生率１．９％。大理市白族Ｇ６ＰＤ缺乏症发生率１．１９％，Ｇ６ＰＤ缺乏症基因频率０．０１１３，与勐腊及德宏傣族相比，Ｐ＜０．０１，差异有显著性。结论（１）Ｇ６ＰＤＧ１３７６Ｔ、Ｇ１３８８Ａ及Ａ９５Ｇ是目前仅在中国人中发现、存在于中国多个少数民族中的基因突变型。提示中华民族中存在比较共同的基因突变，可能起源于共同的祖先；（２）傣族Ｇ６ＰＤ缺乏症发生率高于白族；（３）云南省Ｇ６ＰＤ缺乏症的分布与疟疾流行区一致，这可能是基因组ＤＮＡ长期进化的?
Objective To identify the G6PD gene mutation in Bai nationality and Dai nationality in Yunnan province and to investigate the frequency and frequency of G6PD deficiency in Bai nationality in Dali province so as to understand the molecular evolution and ethnic origin and to provide a theoretical basis for the prevention and treatment of G6PD deficiency. Methods Mutations of G6PD gene were detected by mismatched base PCR / RE, PCR-SSCP, ARMS and DNA sequence analysis. Results The DNA sequence analysis confirmed that G6PDG1388A was found in the Bai people for the first time, the incidence rate was 42%, the incidence rate of G1376T was 21%, and the incidence of A95G was 6%. In the Dai population, the incidence of G1388A was 62% and the incidence of G1376T was 23% G1388A1 was found in Hani ethnic group; G1388A1 was found in Jingpo ethnic group. One case of Dai C1024T mutant was identified by PCR / RE method, with a prevalence of 1.9%. The incidence of G6PD deficiency in Bai people in Dali City was 1.19%, and the frequency of G6PD deficiency genes was 0.0113, P <0.01 compared with Meng and Dehong Dai people, the difference was significant. Conclusions (1) G6PDG1376T, G1388A and A95G are the gene mutation types that are found only in Chinese people and exist in many ethnic minorities in China at present. (2) The prevalence of G6PD deficiency in Dai people is higher than that in Bai people; (3) The distribution of G6PD deficiency in Yunnan province is consistent with that of malaria endemic areas, which may be Long-term evolution of genomic DNA?