부산대학교 도서관

목적: To gain new insight of gene expression into the pathogenesis of trisomy 21 (T21) placenta, we performed whole human genome expression analysis in placenta tissue (normal and T21) samples. 방법: We profiled whole human genome expression of placenta samples from normal and T21 fetuses using GeneChip Human Genome U133 plus 2.0 array and predicted the functions of differentially expressed genes using bioinformatics tools. 결과: One hundred-ten genes were significantly differentially expressed in the T21 placenta compared with the normal placenta (33 down-regulated and 77 up-regulated). Among them, some genes were significantly associated with focal adhesion, Alzheimer's disease, and Parkinson's disease pathway. The down-regulated genes in the T21 placenta were distributed on various chromosomes. The down-regulated genes were significantly associated with cystitis, metaplasia, pathologic neovascularization, airway obstruction, and diabetes mellitus type 2. None of down-regulated genes were on chromosome 21 causing T21, whereas over half (59.7%) of up-regulated genes were located on chromosome 21. The up-regulated genes were significantly associated with T21 and T21-related disorders, such as mental retardation, neurobehavioral manifestations, and congenital abnormalities. 결론: Our findings provide a broad overview of whole human genome expression in the placentas of fetuses with T21 and could contribute to future research efforts concerning genes involvement in disease pathogenesis.