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

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. Overall design: 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.