Abstract
Microarray analysis of transcript levels in fetal cerebellum and heart tissues of Down syndrome patients showed a disruption only of chromosome 21 gene expression.
Highlights
Down syndrome, caused by trisomic chromosome 21, is the leading genetic cause of mental retardation
Exploratory analyses of gene expression We measured the expression levels of up to 18,462 transcripts, representing approximately 15,106 genes, using Affymetrix GeneChip® human U133A microarrays. These transcripts corresponded to 20,261 probe sets, excluding 2,023 Affymetrix bacterial and housekeeping control probes and probes that do not map to any chromosomes
We performed principal components analysis (PCA) to explore the gene expression profiles from four regions in human fetal samples diagnosed with trisomy 21 (TS21) and matched euploid controls
Summary
Down syndrome, caused by trisomic chromosome 21, is the leading genetic cause of mental retardation. Among all the autosomal aneuploidies, Down syndrome (DS), with an incidence of 1 in approximately 800 live births, is most frequently compatible with postnatal survival It is characterized by mental retardation, hypotonia, short stature, and several dozen other anomalies [3,4,5]. Microarrays and other high-throughput technologies have allowed the measurement of steady-state RNA levels for thousands of transcripts in human DS cells [8,9,10] and in tissues obtained from mouse models of DS [11,12,13,14,15] Most of these studies have confirmed a primary gene dosage effect. Statistically significant increase in the expression of trisomic genes assigned to chromosome 21
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