Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

we performed transcriptomic profiling on fibroblasts cultures from controls, TS14 and SRS patients in order to study the effect of hypomethylation at imprinted loci on genes expression RNA seq was perfromed from fibroblasts mRNA of: 4 controls. 4 TS14 patients, 5 SRS patients and one SRS/TS14 patient

为探究印记基因座（imprinted loci）低甲基化（hypomethylation）对基因表达（gene expression）的调控效应，我们针对对照组、TS14患者及SRS患者的成纤维细胞（fibroblasts）培养物开展了转录组谱分析（transcriptomic profiling）。本次实验通过提取以下样本的成纤维细胞信使RNA（mRNA）进行RNA测序（RNA-seq）：4例对照样本、4例TS14患者样本、5例SRS患者样本，以及1例SRS/TS14复合患者样本。