G6PD缺乏症是蚕豆病发生的遗传基础，G6PD缺乏症患者对蚕豆反应具有个体差异性。研究表明microRNA在血液系统疾病的发生过程中具有重要作用。本课题通过收集蚕豆病发病病人血样，采用新一代测序的方法分析血浆中microRNA表达谱，寻找与蚕豆病相关的特征性microRNA，并在群体中验证。用生物信息学方法分析预测这些microRNA影响的靶基因和调控其表达的转录因子，通过功能聚类和富集寻找与蚕豆病发病相关的功能基因，并通过免疫印迹试验验证红细胞中被调控蛋白的表达情况，为阐明蚕豆病发生的分子机制提供科学依据。

G6PD deficiency is the genetic basis of favism. However, the response to fava bean is heterozygous among G6PD deficiency patients. Several researches showed that microRNAs play important role in the development of blood diseases. To search the characteristic microRNA in erythrocytes and plasma associated with favism, we use next-generation sequencing approaches to analyze microRNAs expression profiles in the matured red blood cells and plasma from favism patients, G6PD deficient patients and normal controls. The characteristic microRNAs are verified by QRT-PCR in large sample. Bioinformatic methods are used to predict the targets of the characteristic microRNAs and the transcription factors that regulate the expression of the characteristic microRNAs. The GO and KEGG Pathway enrichment analysis are carried to search differentially expressed microRNA and functional genes correlated with pathogenesis of favism. The expression of the target erythrocyte proteins will be verified by western blot. The study will demonstrate the roles of microRNAs in the development of favism at molecularlevels and provide scientific evidence for elucidating the molecular mechanism of favism.

G6PD缺乏症是蚕豆病发生的遗传基础，G6PD缺乏症患者对蚕豆反应具有个体差异性。研究表明microRNA在血液系统疾病的发生过程中具有重要作用。本课题通过收集蚕豆病发病病人血样，采用新一代测序的方法分析红细胞和血浆中microRNA表达谱，寻找与蚕豆病相关的特征性microRNA。通过microRNA测序，蚕豆病患者红细胞中找到10个microRNA (rno-miR-183-5p, rno-miR-1912-3p, rno-miR-199a-3p, rno-miR-214-3p, rno-miR-3473, rno-miR-34c-5p, rno-miR-3552, rno-miR-483-3p, rno-miR-764-5p, rno-miR-96-5p），与G6PD缺乏症患者具有显著差异。这些microRNA涉及多个与细胞组成相关的GO进程，如cell part, organelle, membrane part, macromolecular complex等。蚕豆病患者的microRNA分析表明，这些在红细胞中残存的microRNA可能影响红细胞的膜结构及细胞生长进程。