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目的对天津市1个强直性肌营养不良(myotonic dystrophia,DM)家系进行基因型鉴定并筛查差异表达基因(differentially expressed genes,DEGs),探讨其与DM发病及临床表现的关系。方法采用PCR及基因测序鉴定基因型;cRNA微阵列技术对基因表达情况进行检测和比较,找出DEGs并进行基因本体论(gene ontology,GO)和京都基因与基因组百科全书通路分析;实时荧光定量PCR验证芯片结果。结果该家系为DM2型,基因芯片共筛选出391个共同表达的DEGs,其中139个表达上调,252个表达下调;GO分析发现DEGs涉及生物学过程、分子功能、细胞组分等多项功能;京都基因与基因组百科全书分析显示DEGs参与趋化因子、神经活性配体受体相互作用、细胞周期等多个生化代谢途径和信号转导途径,其中细胞因子及其受体交互作用通路与基因表达的变化最相关(P<0.05,Q<0.05),涉及16个DEGs。结论天津该DM2家系成员基因表达谱与正常人存在明显差异,每个基因在DM2中的作用有待于进一步研究。
Objective To identify genotypes of one myotonic dystrophia (DM) pedigree in Tianjin and screen differentially expressed genes (DEGs) for the relationship with the pathogenesis and clinical manifestations of DM. Methods The genotypes were identified by PCR and gene sequencing. The gene expression was detected and compared by cRNA microarray. DEGs were identified and gene ontology (GO) and Kyoto Encyclopedia of Genome and Genome Access were analyzed. Real-time fluorescence quantitative PCR verification chip results. Results A total of 391 differentially expressed DEGs were screened out by gene chip. Among them, 139 were up-regulated and 252 were down-regulated. GO analysis showed that DEGs involved in biological processes, molecular functions, cell components and many other functions; Kyoto Encyclopedia of Genes and Genomes showed that DEGs is involved in many biochemical metabolic pathways and signal transduction pathways such as chemokines, neuroactive ligand receptor interactions and cell cycle. The interaction between cytokines and their receptors and gene expression (P <0.05, Q <0.05), involving 16 DEGs. Conclusion There is a significant difference in the gene expression profile among the DM2 pedigrees in Tianjin and normal subjects. The role of each gene in DM2 remains to be further studied.