目的对皮层下带状灰质异位症(subcortical band heterotopias,SBH,双皮层综合征)患者进行已经证实的致病基因DCX和LIS1检测,明确其基因型与临床表型、影像学的关系。方法对确诊为皮层下带状灰质异位症的1例患者进行相关基因DCX和LIS1的...目的对皮层下带状灰质异位症(subcortical band heterotopias,SBH,双皮层综合征)患者进行已经证实的致病基因DCX和LIS1检测,明确其基因型与临床表型、影像学的关系。方法对确诊为皮层下带状灰质异位症的1例患者进行相关基因DCX和LIS1的检测。结果发现患者有DCX基因2号外显子新发突变,c.451A>G(p.K151E)。结论对确诊的SBH患者进行相关基因检测对分析患者的表型、影像学特点及预后有重要的临床意义。展开更多
Radiation therapy plays a critical role in the treatment of neurogliocytoma and it is known that doublecortin (DCX)-transfected U87 cells can inhibit tumor cell growth. Microarray analysis to screen for differentially...Radiation therapy plays a critical role in the treatment of neurogliocytoma and it is known that doublecortin (DCX)-transfected U87 cells can inhibit tumor cell growth. Microarray analysis to screen for differentially expressed genes in DCX-transfected U87 cells before and after radiation uncovered DCX-related genes, the functions of DCX, and downstream genes in radiation therapy of neurogliocytoma. Stably transfected U87 cells were constructed (DCX-U87) and the differentially expressed genes were screened by microarray analysis to compare U87 cells with DCX-U87 cells in both non-irradiated and irradiated conditions. Cells were irradiated using 60Co γ-ray at a dose rate of 1.0 Gy/min. Mean values were subject to paired comparison analysis and genes with a p-value of less than 0.05 were analyzed. Differentially expressed genes can correlate with radiation sensitivity and DCX transfection. DCX and SPN proteins in DCX-U87 cells were detected by two groups of 0 and 10 Gy, but not the U87 cells, and their expression levels were higher in the 10 Gy group than in the 0 Gy group. The differential gene expression in DCX-U87 cells before and after radiation is helpful for future investigations into the mechanisms of radiation therapy in neurogliocytoma cells.展开更多
文摘目的对皮层下带状灰质异位症(subcortical band heterotopias,SBH,双皮层综合征)患者进行已经证实的致病基因DCX和LIS1检测,明确其基因型与临床表型、影像学的关系。方法对确诊为皮层下带状灰质异位症的1例患者进行相关基因DCX和LIS1的检测。结果发现患者有DCX基因2号外显子新发突变,c.451A>G(p.K151E)。结论对确诊的SBH患者进行相关基因检测对分析患者的表型、影像学特点及预后有重要的临床意义。
基金Supported by National Natural Science Foundation of China (NO.30870585)the Priority Academic Program development of Jiangsu Higher Education Institutions (PAPD)
文摘Radiation therapy plays a critical role in the treatment of neurogliocytoma and it is known that doublecortin (DCX)-transfected U87 cells can inhibit tumor cell growth. Microarray analysis to screen for differentially expressed genes in DCX-transfected U87 cells before and after radiation uncovered DCX-related genes, the functions of DCX, and downstream genes in radiation therapy of neurogliocytoma. Stably transfected U87 cells were constructed (DCX-U87) and the differentially expressed genes were screened by microarray analysis to compare U87 cells with DCX-U87 cells in both non-irradiated and irradiated conditions. Cells were irradiated using 60Co γ-ray at a dose rate of 1.0 Gy/min. Mean values were subject to paired comparison analysis and genes with a p-value of less than 0.05 were analyzed. Differentially expressed genes can correlate with radiation sensitivity and DCX transfection. DCX and SPN proteins in DCX-U87 cells were detected by two groups of 0 and 10 Gy, but not the U87 cells, and their expression levels were higher in the 10 Gy group than in the 0 Gy group. The differential gene expression in DCX-U87 cells before and after radiation is helpful for future investigations into the mechanisms of radiation therapy in neurogliocytoma cells.