西南医科大学学报2024，Vol.47Issue(3)：215-220,6.DOI:10.3969/j.issn.2096-3351.2024.03.007
基于深度测序和生信分析挖掘高原汉族人群红细胞增多症变异的研究
A study of polycythemia variants in the plateau Han population based on deep sequencing and bioinformatics analysis
摘要
Abstract
Objective By comparing small-sample exome sequencing with public databases,bioinformatics mining is conducted to explore the correlation between variations and the onset of high altitude polycythemia(HAPC)in the Han population.Methods Firstly,four cases of Han Chinese men with HAPC and five cases of healthy men with HAPC were enrolled,and venous blood was col-lected and DNA was extracted for whole exome sequencing;the sequencing data were subjected to functional enrichment analysis(Gene Ontology(GO)&Kyoto Encyclopedia of Genes and Genomes(KEGG))to construct a protein protein interaction(PPI)network for mutated genes,and the most significant genes were selected to screen for potential key HAPC-related variants and the possible mechanisms of HAPC.We constructed a protein protein interaction(PPI)network,selected the most significant genes,screened poten-tial key HAPC-associated mutation sites,and initially investigated the possible mechanisms of HAPC pathogenesis.Results Through whole exome sequencing,216 HAPC-related mutated genes were identified,among which the EGF gene was highly significant in the Functionality Enrichment Analysis(GO&KEGG),Protein Protein Interaction Network(PPI),and 5 potentially key HAPC-related variant sites were initially screened,and through bioinformatic prediction and analysis,3 possible EGF genes on the EGF gene were fi-nally screened out variants c.2124G>A(p.Met708Ile),c.2351A>T(p.Asp784Val),and c.2759A>T(p.Glu920Val),which might be mutation sites for HAPC and were associated with HAPC pathogenesis.Conclusion The present study demonstrated a correlation be-tween variants in the EGF gene and the development of HAPC in the Han Chinese population.Variants in the EGF gene might affect protein structure by interfering with RNA splicing and altering the secondary structure of RNA,thereby affecting the production of EGF and the development of HAPC.关键词
高原红细胞增多症/EGF基因/生物信息学/全外显子测序Key words
Haigh altitade polycythemia(HAPC)/EGF gene/bioinformatics/whole exon sequencing分类
医药卫生引用本文复制引用
王思源,罗勇军..基于深度测序和生信分析挖掘高原汉族人群红细胞增多症变异的研究[J].西南医科大学学报,2024,47(3):215-220,6.基金项目
国家科技部第二次青藏高原综合科学考察研究专题(2019QZKK0607) （2019QZKK0607）
