云南省重点地区疟疾病例G6PD基因突变研究

目的 通过分析云南省间日疟病例G6PD基因特征,摸清病例G6PD基因分子流行病学分布,为云南省疟疾规范治疗提供技术参考。方法 收集2016年度云南省间日疟病例标本和病例流行病学史等信息,对照G6PD基因特征序列,采用聚合酶链式反应扩增目的基因片段,获得分析片段,对获取的片段进行电泳并进行序列测定。结果 使用MEGA及SPSS进行分析,分析位点突变率、群体间遗传分化指数及地区间突变差异情况。结果共计检测样本188份,基因主要突变类型为点突变（point mutation）,20280 C>T和1311 T>C突变率较高,突变率均为78.1%（147/188）,1311 T>C系沉默突变（silent mutation）,20280 C>T突变表现为单核苷酸多态性（Single Nucleotide Polymorphism）;未发现A95G、G1376T和G1388A突变。通过比对,云南间日疟病例G6PD基因与GenBank G6PD基因遗传距离为0.00~0.028,1311突变型（T>C）与1311野生型遗传距离为0.021。腾冲市1311 T>C突变率为92%（23/25）,盈江县1311 T>C突变率为77.8%（102/131）,两者差异无统计学意义（P>0.05）。结论 云南省间日疟病例G6PD基因主要突变位点地区间差异不明显,现有的疟疾治疗方案不需要调整,但治疗时应密切关注药物性溶血的发生。

Study on G6PD gene mutation of malaria cases in endemic areas of Yunnan

Objective To analyze the G6PD gene characteristics of vivax malaria cases in Yunnan Province, so as to provide the technical reference for the standard treatment of malaria in this province. Methods The epidemiological information of vivax malaria cases was collected in Yunnan Province in 2016. The G6PD gene sequences were compared, and the target fragments were amplified by using polymerase chain reaction. The fragments obtained were sequenced by software. The results were analyzed by MEGA and SPSS. Results A total of 188 samples were detected. The gene mutational type was point mutation, 20280 C>T and 1311 T>C had high mutation rate, unanimously 78.1% (147/188), 1311 T>C was silent mutation, and 20280 C>T mutation was single nucleotide polymorphism. The mutations of A95G, G1376T and G1388A were not found. The genetic distance of G6PD gene of Yunnan vivax malaria cases and the GenBank G6PD gene was 0.00-0.028. The genetic distance of 1311 T>C mutation and 1311 wild type was 0.021. The 1311 T>C mutation rate was 92% (23/25) in Tengchong City and was 77.8% (102/131) in Yingjiang County, and there was no significant difference between of them （P>0.05）. Conclusion The major mutational loci of G6PD gene are not significantly different among different regions in Yunnan Province. It is not necessary to adjust the current malaria treatment program in Yunnan Province. However, the physicians should pay attention to the occurrence of drug-induced hemolytic anemia.