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目的 确定 2 3例云南籍 G6 PD缺乏症病例的基因突变类型 ,了解 G6 PD基因突变的分子遗传特性。方法 运用扩增阻滞突变系统、自然及错配引物 PCR/限制性酶切、PCR-单链构象多态分析及 DNA自动测序技术 ,检测分析了 2 3例云南 G6 PD缺乏症病例第 2～ 12共 11个 G6 PD基因外显子和部分内含子的基因突变。结果 2 3例中共发现 5种突变 ,形成了 5种突变基因型 :G487A10例 (7例汉族、3例傣族 )、IVS- 11T39C复合 C1311T7例、IVS- 5 6 36或 6 37T→del4例、G871A1例、G487A/ T93C/ C1311T1例。云南人群中存在 93C/ 1311T、487A/ 93C/ 1311T两种单体型。IVS- 11T93C突变产生的多态性 Nla 酶切位点与 1311T呈现紧密关联。首次报道了 IVS- 5 6 36或 6 37T→ del在中国人群中、G871A在中国大陆地区以及G487A在云南汉族的存在。结论 云南省 G6 PD缺乏症具有明显的异质性 ;G487A突变是该地区的常见G6 PD基因突变 ,并可能有不同的起源 ;IVS- 11T93C突变可能起源于非洲以外地区 ,并与 C1311T共同作用而导致 G6 PD活性降低。 G6 PD基因突变型研究对疾病防治、民族起源及迁移等研究具有重要价值
Objective To determine the types of genetic mutations in 23 Yunnan cases of G6 PD deficiency and to understand the molecular genetic characteristics of G6 PD gene mutation. Methods A total of 23 cases of G6 PD deficiency in Yunnan province were detected and analyzed by using the amplification and mutation system, natural and mismatched primers PCR / restriction analysis, PCR-single strand conformation polymorphism analysis and DNA automated sequencing. A total of 11 G6 PD gene exons and some introns gene mutations. Results A total of 5 mutations were found in 23 cases, including 5 cases of G487A mutation (7 cases of Han and 3 cases of Dai), 7 cases of IVS-11T39C complex C1311T, 4 cases of IVS-5636 or 637T → del and G871A1 Example, G487A / T93C / C1311T1 cases. Yunnan population there 93C / 1311T, 487A / 93C / 1311T two haplotypes. IVS-11T93C mutation generated polymorphism Nla restriction sites and 1311T appear closely related. For the first time reported IVS-5 6 36 or 6 37T → del in the Chinese population, G871A in mainland China and the presence of G487A in Yunnan Han. Conclusions There is obvious heterogeneity of G6 PD deficiency in Yunnan Province. G487A mutation is a common G6 PD gene mutation in this area and may have different origins. The IVS-11 T93C mutation may originate outside of Africa and work with C1311T Leading to a decrease in G6 PD activity. G6 PD gene mutation research is of great value to disease prevention and treatment, ethnic origin and migration