福州市境外输入恶性疟原虫感染病例的基因突变分析

Gene mutation analysis of Plasmodium falciparum infection cases imported from abroad in Fuzhou City

目的对福州市境外输入的恶性疟原虫感染病例进行氯喹抗药性转运基因和青蒿素抗药性基因K13检测,分析基因突变情况。方法收集2019—2022年从非洲返回福州市的57例疟疾病例的血液样本进行恶性疟原虫DNA检测,采用巢式PCR法对Pfmdr1和K13基因进行扩增,通过测序和比对分析其突变情况。不同地区和突变位点的占比用n(%)表示,率的比较采用χ^(2)检验。结果男性恶性疟原虫感染率明显高于女性,差异有统计学意义(χ^(2)=91.263,P<0.05);疟疾病例数最多的3个国家为刚果民主共和国、尼日利亚联邦共和国、科特迪瓦共和国;恶性疟原虫感染病例检测到的Pfmdr1基因中86位点突变率为22.81%;1246位点突变率为3.51%;其中K13基因出现同义突变2个,非同义突变6个;1份血样中检测出R471R和A578S位点突变,其他位点突变在1份血样中检出,均与青蒿素抗药性相关。结论2019—2022年从非洲输入福州市的疟疾病例血液样本中检测到的恶性疟原虫DNA存在Pfmdr1和K13基因突变,需要持续加强相关监测。

Objective Chloroquine insecticide resistance transporter gene and artemisinin insecticide resistance gene K13 were detected in Plasmodium falciparum infection cases imported from abroad in Fuzhou City,and the gene mutation was analyzed.Methods Blood samples were collected from 57 malaria cases returned from Africa to Fuzhou City from 2019 to 2022 for Plasmodium falciparum DNA detection.The Pfmdr1 and K13 genes were amplified by nested PCR,and their mutations were analyzed by sequencing and alignment.The proportion of different regions and mutation sites were expressed by n(%),and the comparison of rates was using the Chi-square test.Results The infection rate of Plasmodium falciparum in males was significantly higher than that in females,and the difference was statistically significant(χ^(2)=91.263,P<0.05).The three countries with the highest number of malaria cases were the Democratic Republic of the Congo,the Federal Republic of Nigeria,and the Republic of Côte d′Ivoire.The mutation rate of 86 site in the Pfmdr1 gene was 22.81%in Plasmodium falciparum infection cases.The mutation rate of 1246 site was 3.51%.There were two synonymous mutations and six non-synonymous mutations in the K13 gene.Mutations at R471R and A578S sites were detected in one blood sample,and other sites of mutations were detected in one blood sample,all of which were associated with artemisinin insecticide resistance.Conclusion Pfmdr1 and K13 gene mutations are detected in Plasmodium falciparum DNA from blood samples of malaria cases imported from Africa to Fuzhou City from 2019 to 2022,and the relevant surveillance needs to be strengthened continuously.