论文部分内容阅读
目的 探讨PTEN基因突变和 10q染色体的杂合性缺失 (LOH)在少突胶质细胞瘤发生和发展中的意义。 方法 以 5 5例少突胶质细胞瘤和混合性胶质细胞瘤为研究对象 ,PCR扩增PTEN基因所有 9个外显子 ,其产物经变性梯度凝胶电泳 (DGGE)后 ,DNA序列分析检测PTEN基因突变。应用不同颜色荧光标记 10q微卫星标志物引物 ,PCR扩增后 ,其产物在自动测序仪上进行聚丙烯酰胺凝胶电泳 ,用GeneScan软件分析LOH。 结果 2 5 5例有PTEN基因突变 ,1例是PTEN的第 9外显子的 2 0号T碱基缺失导致终止密码 35 1易位至 347,另 1例在 139位发生C到A的转换 ,使得Phe变成Leu。 2 3 5 5 (4 2 % )例出现染色体 10q的LOH ,其中 15 / 5 5例位于 10q2 3,3(D10S5 4 1) ,其为PTEN基因位点 ,12 / 5 5例 10q微卫星标志物位点完全缺失。 结论 在少突胶质细胞瘤中PTEN突变较少见 ,而 10qLOH较频繁 ,尤其在恶性度高的少突胶质细胞瘤中表现明显 ,提示 10qLOH与少突胶质细胞瘤恶性进展有关 ,且 10q上可能存在其他抑癌基因
Objective To investigate the significance of mutation of PTEN gene and loss of heterozygosity (LOH) of chromosome 10q in the occurrence and development of oligodendroglial tumor. Methods Fifty-five cases of oligodendroglioma and mixed glioblastoma were enrolled in this study. All nine exons of PTEN gene were amplified by PCR. The products were analyzed by DNA sequencing after denaturing gradient gel electrophoresis (DGGE) Detection of PTEN gene mutation. Fluorescent labeling of 10q microsatellite markers with different colors was performed. After PCR amplification, their products were subjected to polyacrylamide gel electrophoresis on an automated sequencer and analyzed by GeneScan software. Results A total of 255 cases with PTEN gene mutation and 1 case with PTEN exon 9 T base deletion resulted in a termination codon 35 1 translocation to 347 and the other case had a C to A transition at position 139 , Making Phe Leu. There were 25 cases of LOH with chromosome 10q in 2 3 5 5 cases (15 of 55 cases located in 10q2 3,3 (D10S5 4 1), which were PTEN gene locus, 12 of 5 5 cases of 10q microsatellite markers The site is completely missing. Conclusions The mutation of PTEN is rare in oligodendroglioma, while 10qLOH is more frequent, especially in the malignant oligodendroglioma, suggesting that 10qLOH is associated with the malignant progression of oligodendroglioma, and There may be other tumor suppressor genes on 10q