Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls. Homo sapiens

In order to characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we compared gene expression in uncultured amniotic fluid supernatant samples. We identified individually differentially expressed genes via paired t-tests in the matched samples, and a set of differentially expressed genes on chromosome 21 using Gene Set Enrichment Analysis. Functional pathway analysis of the resulting genes highlighted the importance of oxidative stress, ion transport, and G-protein signaling in the DS fetuses. Overall design: We profiled seven DS expression samples and seven controls matched for gender and approximate gestational age..

为了表征妊娠中期唐氏综合征（Down Syndrome, DS）胎儿与整倍体胎儿之间的差异，我们对未培养的羊水上清液样本的基因表达水平开展了对比分析。我们通过配对t检验对匹配样本中的个体差异表达基因进行了鉴定，并借助基因集富集分析（Gene Set Enrichment Analysis）筛选出21号染色体上的差异表达基因集。针对上述基因的功能通路分析结果凸显了氧化应激、离子转运以及G蛋白信号通路在唐氏综合征胎儿中的重要性。整体实验设计：我们对7例唐氏综合征胎儿表达样本与7例性别、估算胎龄相匹配的对照样本进行了基因表达谱分析。