Screening of differentially expressed genes from patients with Bardet-Biedl syndrome by gene chip analysis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the differential gene expression profile from patients with Bardet-Biedl syndrome (BBS) by oligonucleotide microarray technique.</p><p><b>METHODS</b>Total RNA of 3 probands with BBS and 4 healthy siblings were isolated from peripheral blood mononuclear cells and reverse-transcribed to cDNAs. Then the cDNAs were subjected for microarray screening with Affymetrix U133 Plus 2.0 array. Genechip scanner was applied to screen the hybridization signals. Genes differentially expressed between the BBS probands and controls were identified by using GCOS1.4 software with the standard of two-fold change (P<0.05) of expression.</p><p><b>RESULTS</b>Fifteen genes were up-regulated 2 or more fold and another 15 genes were down-regulated 2 or more fold in the BBS patients, among them 12 genes were related to signaling pathway and cell cycle by Gene Ontology (GO) analysis.</p><p><b>CONCLUSION</b>The differentially expressed genes identified may correlate with the function or structure of cilia. Their roles in the BBS genesis need to be further studied.</p>