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学科主题: 泌尿外科学
题名:
肾癌微卫星不稳定性及其机制的研究
其他题名: Microsatellite instability in renal cell carcinoma and its machanisms
作者: 俞莉章1; 唐东起1; 丁义1; 刘漓波1; 郭应禄1
关键词: 肾肿瘤 ; 微卫星不稳定 ; 基因突变
刊名: 中华肿瘤杂志
发表日期: 2001
DOI: 10.3760/j.issn:0253-3766.2001.01.003
卷: 23, 期:1, 页:11-13
收录类别: 中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型: Journal Article
摘要: 探讨微卫星不稳定性(microsatellite instability, MSI)在肾细胞癌中的表现及与基因突变的关系。方法用PCR方法分析34例肾细胞癌MSI表现;应用RT-PCR方法检测5种人类错配修复(mismatch repair,MMR)基因在肾细胞癌和肾癌细胞系mRNA转录水平的表达;用PCR-SSCP技术对15例肾细胞癌标本进行MMR基因hMLH1的19个外显子进行筛选,观察基因突变的情况;用PCR方法检查肾癌组织中TGF-β?II型受体(TGF-β?R?II)基因和BAX基因移码突变的情况。结果 34例肾细胞癌中有15例(44.1%)表现为MSI,并多见于晚期肿瘤;15例表达MSI阳性肾癌标本中,3例hMLH1基因mRNA表达缺失,3例表达明显降低,但在正常对照及PCC949细胞系都表达5种MMR基因;PCR-SSCP筛检结果,15例MSI(+)细胞中3例显示异常电泳带型;40%(6/15)及27%(4/15)分别见TGF-β?R?II基因及BAX基因移码突变,但不表现在MSI(-)肾肿瘤及正常细胞中。结论肾细胞癌MSI与MMR基因表达有关,较高的突变率在肿瘤发生中的作用与MSI有关。 Objective To study the expression of microsatellite instability (MSI) in renal cell carcinoma (RCC) and its relationship with gene mutation. Methods Tumor samples from 34 patients with RCC were analyzed for MSI by PCR. RT-PCR was used to evaluate the expression of mRNA of 5 human mismatch repair (MMR) genes in RCC and RCC cell lines. Mutation of hMLH1 gene coding regions was detected by PCR-SSCP. PCR was used to check the  mutations of  TGF-β?R?II gene and BAX gene in 15 MSI-positive samples of RCC.  Results Microsatellite changes were detected in 15 of 34 patients with RCC (44.1%). It might be associated with the progression of this disease. There were 3 of 15 MSI-positive RCC cases without expression of MMR gene hMLH1, and in 3 of 15 cases its expression was decreased. All 5 MMR genes were expressed in normal and RCC 949 cell line. There were three mutations in 15 MSI-positive cases. Frame shift mutation of TGF β?R?II gene and BAX gene was found in 6 and 4 of the 15 cases with MSI, respectively, but it was not found in MSI-negative RCC and normal tissue. Conclusion MSI and expression of MMR genes are associated events in RCC. The effect of gene mutation on tumorgenerasis may be related to MSI.
语种: 中文
原文出处: 查看原文
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/45567
Appears in Collections:北京大学第一临床医学院_泌尿外科_期刊论文

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作者单位: 1.北京医科大学第一医院泌尿外科,北京医科大学泌尿外科研究所
2.北京医院大字第一医院泌尿外科,北京医科大学泌尿外科研究所

Recommended Citation:
俞莉章,唐东起,丁义,等. 肾癌微卫星不稳定性及其机制的研究[J]. 中华肿瘤杂志,2001,23(1):11-13.
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