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GF-β1在脑膜瘤中变异的研究

Research of TGF-? mutation in meningiomas

中文摘要英文摘要

目的 从基因水平上研究在脑膜瘤标本中TGF-β信号通路重要分子的单核苷酸多态性(SNP)。 方法 利用脑膜瘤手术切除的新鲜标本进行DNA抽提、PCR扩增、虾碱酶(SAP)纯化,利用新一代测序技术测定样本中TGF-β信号通路重要分子TGF-β1的基因序列,并与野生型TGF-β1基因序列比较肽链序列的异同,分析这一基因序列的单核苷酸多态性及其分布规律。 结果 经测序发现,脑膜瘤标本的mRNA中存在一个错义突变,即第1号外显子第29位碱基突变,即TGF-β1核苷酸链上第29位碱基由原先的"C"突变为"T",致使TGF-β1肽链上第10位密码子的脯氨酸(P)变成了亮氨酸(L)。 结论 测序测得的突变位点位于TGF-β1基因上,我们可以推测,TGF-β1基因在脑膜瘤发生发展过程中即已失活,可能是脑膜瘤形成的使动因素之一。

Objective: To study single nucleotide polymorphisms (SNPS) of the related molecules of TGF-β signaling pathways in meningioma cells at gene level. Method: Using meningioma resected from fresh specimens to DNA extraction, PCR amplification, shrimp alkali enzyme purification (SAP). DNA sequence of the related molecules of TGF-β singaling pathway TGF-β1 was sequenced by A generation of sequencing technology and compared to the sequence of wild-type Homo Sapiens TGF-β1 in GenBank. The SNP from above was analysed and we try to find the regularities of distribution refering to the results of the SNP from DNA sequencing of those molecules in meningioma tumor tissue by resection of meningioma. Results: From sequencing found, there was a missense mutation in the mRNA of TGF-β1 of meningioma tumor tissue. The SNP in meningioma tumor tissue was TGF-β1-C29T and the mutation was missense. For the amino acids sequence in the peptide chain of TGF-β1, the mutation was the 10th from proline(P) to leucine(L). Conclusion: The mutation in this sequencing study located in TGF-β1. From this, we assume that the mutation of TGF-β1 occurs in the stage of development and progression, which is probably an initiating agent for the tumorigenesis of meningioma.

刘志宇、郭威、张全斌、赵耀东

肿瘤学基础医学分子生物学

单核苷酸多态性GF-β信号通路脑膜瘤基因突变

Single nucleotide polymorphismsTGF-β signaling pathwaysMeningiomaGenetic mutations

刘志宇,郭威,张全斌,赵耀东.GF-β1在脑膜瘤中变异的研究[EB/OL].(2014-07-10)[2025-08-04].http://www.paper.edu.cn/releasepaper/content/201407-130.点此复制

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