Gene expression profiling in whole blood in patients for Klinefelter’s Syndrome

To study the difference of gene expression pattern of whole blood between klinefelter’s syndrome and normal individuals and discovered the disease-related genes and biological pathway. 717 differentially expressed genes (480 up regulated, 237 down regulated) were identified between whole blood samples of the klinefelter’s patients and normal volunteers. Function enrichment analysis identified a number of genes involved in immune response, metabolism etc. Three genes with significant down-regulation in Klinefelter’s patients were also confirmed by qRT-PCR.Using the whole blood as material in patients with klinefelter’s syndrome, the differentially expressed genes was identified. It is noticed that genes involved in metabolism pathways were significantly decreased. These observations may suggest aberrant of metabolism may be important for developing the klinefelter’s syndrome. In addition, our results also show that no X-linked genes are overexpression in the peripheral blood cells of KS patients. In the present study, we examined gene expression in whole blood of 5 klinefelter’s patients and 5 healthy control volunteers. The RNA of 10 samples was isolated and Gene expression was detected by gene microarray. The different expressed genes were analyzed by SAM software.

本研究旨在探究克氏综合征（Klinefelter’s Syndrome，KS）患者与正常个体全血的基因表达谱差异，筛选疾病相关基因并解析其参与的生物学通路。本研究共在克氏综合征患者与健康志愿者的全血样本中鉴定出717个差异表达基因（differentially expressed genes，DEGs），其中480个上调表达、237个下调表达。功能富集分析显示，此类差异表达基因广泛参与免疫应答、代谢等生物学过程；另有3个在克氏综合征患者中显著下调的基因经实时荧光定量PCR（quantitative real-time PCR，qRT-PCR）验证确认。本研究以克氏综合征患者的全血为实验材料筛选差异表达基因时，发现参与代谢通路的基因表达水平显著降低，上述结果提示代谢异常可能在克氏综合征的发生发展中发挥重要作用。此外，本研究结果还显示，克氏综合征患者外周血细胞中未出现X连锁基因（X-linked genes）的过表达现象。本研究共纳入5名克氏综合征患者与5名健康对照志愿者，提取10份样本的总RNA后，通过基因芯片（gene microarray）检测基因表达水平，并采用SAM软件（Significance Analysis of Microarrays）对差异表达基因进行分析。