论文部分内容阅读
目的采用多重连接依赖式探针扩增法(MLPA),分析筛查不同肾上腺皮质肿瘤中基因缺失/重复的差别。方法选择5例肾上腺皮质腺瘤和2例肾上腺皮质癌患者,采用MLPA的方法针对癌基因和抑癌基因,对肿瘤组织DNA潜在发生缺失/重复的基因进行突变筛查。结果肾上腺皮质良性肿瘤中,部分存在06p21.3、12q24.13、17p13.1、17q21.1、19q13.41基因位点重复性改变;在肾上腺皮质癌中,上述区段均发生改变,同时存在片段11q13缺失。结论MLPA法适合检测肾上腺皮质肿瘤的基因缺失/重复位点,肾上腺皮质腺瘤中基因位点改变数目显著少于皮质癌。
Objective To investigate the differences of gene deletion / duplication in different adrenocortical tumors by using multiplex ligation - dependent probe amplification (MLPA). Methods Five cases of adrenocortical adenoma and two cases of adrenal cortical carcinoma were selected. MLPA was used to screen for mutations in potential tumor genes and tumor suppressor genes. Results In adrenocortical benign tumors, there were some repeats of 06p21.3, 12q24.13, 17p13.1, 17q21.1 and 19q13.41 loci. In adrenal cortical carcinoma, the above sections both changed and existed Fragment 11q13 is missing. Conclusion The MLPA method is suitable for the detection of adrenocortical tumor gene deletion / duplication sites. The number of loci changes in adrenocortical adenomas is significantly less than that in cortical carcinomas.