Screening of IL-3 and IL-3+SCF Induce Differentially Expressed Genes and Signaling Pathways in Bone Marrow-derived Mast Cells Based on Bioinformatics / 现代检验医学杂志

Objective To identify the differentially expressed genes and pathways of bone marrow-derived mast cells(BMMCs)of mice induced by IL-3 and IL-3+stem cell factor(SCF)using bioinformatics analysis,which may provide a foundation for in vitro culture and functional study of mast cells(MC).Methods The matrix data of GSE35332 dataset in IL-3 and IL-3+SCF induced BMMCs was downloaded from the GEO database,and the R software was applied to screen differentially expressed genes(DEGs).The gene ontology(GO)and Kyoto encyclopedia of genes and genomes(KEGG)pathway enrichment analysis of EDGs were performed based on the online tool DAVID database.The protein interaction network was constructed by STRING database and hub genes were screened through MCODE plugin of the Cytoscape software.Results The GSE35332 data set was analyzed by R software,and 1 339 DEGs were screened,including 723 up-regulated genes and 616 down-regulated genes.A total of 6 hub genes were screened through the MCODE plugin of Cytoscape software,namely Psmd8,Psmd6,Psmd14,Psmc4,Psma6 and Psma3.GO and KEGG analysis showed that the hub genes were concentrated in proteolysis,antigen processing and presentation of exogenous peptide antigen via MHC class I,proteasome-mediated ubiquitin-dependent protein catabolism process,and Epstein-Barr virus infection.Conclusion This study found that there were significant differences in BMMCs gene expression profiles in mice induced by two modes and 6 hub genes participated in ubiquitin-dependent protein decomposition process through bioinformatics based on the GEO database,providing help for further research on MC vitro culture and function.

Influence of thyroid function on the fetal fraction during second trimester of pregnancy / 中华医学遗传学杂志

OBJECTIVE@#To assess the influence of thyroid function on the fetal fraction (FF) during the second trimester of pregnancy.@*METHODS@#A total of 1 861 pregnant women undergoing non-invasive prenatal testing (NIPT) and thyroxine function testing at 12 ~ 26 gestational weeks at the Affiliated Suzhou Hospital of Nanjing Medical University/Suzhou Municipal Hospital from January 2016 to December 2020 were selected as the study subjects. Univariate analysis and multivariate regression models were used to assess the correlation between free thyroxine 4 (FT4) levels and FF.@*RESULTS@#Univariate linear regression analysis indicated that the FF is correlated to the level of FT4 (b = 0.035, P < 0.001). The median fetal FF was 10.78% (IQR: 8.2%, 13.82%), and this has increased along with the level of FT4 from 10.58% at <= 12.0 pmol/L to 11.77% at > 16.0 pmol/L. After further adjustment of gestational age and body mass index (BMI), the FF showed an increase trend along with the increase of FT4 levels, and a trend test also showed a statistical significance (Ptrend < 0.001).@*CONCLUSION@#Maternal FF can be affected by the level of free thyroxine during the second trimester of pregnancy.

Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for a Chinese family affected with neurofibromatosis type I.@*METHODS@#Peripheral blood samples were collected from the proband and his parents. Potential mutations of NF1 gene were screened by PCR and Sanger sequencing. Pathogenicity of candidate mutations was analyzed using Polyphen-2 and Provean software.@*RESULTS@#Two mutations of the NF1 gene, including c.702G>A (synonymous mutation) and c.1733T>G (missense mutation), were discovered in the proband. Neither mutation was found in his parents and 50 healthy controls. Bioinformatics analysis indicated that the c.1733T>G mutation (p.Leu578Arg) was probably damaging. The affected codon L578 is highly conserved across various species.@*CONCLUSION@#The c.1733T>C mutation of the NF1 gene probably underlies the neurofibromatosis type I in this family.