期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

人脑星形细胞瘤PTEN/MMAC1基因突变的研究 被引量：2

Analysis of the PTEN/MMAC Gene Mutation in Human Astrocytoma
在线阅读 下载PDF
导出
摘要 目的了解在人脑星形细胞瘤中PTEN/MMAC基因第五、第八外显子的突变情况及其在肿瘤恶性进展中的作用。方法应用聚合酶链反应(PCR),银染PCR-单链构象多态性(SSCP)技术对52例人脑星形细胞瘤,7例正常脑组织和3例外周血标本进行检测。结果52例病人中8例发生PTEN/MMAC第五、第八外显子点突变,突变率为15.4%(8/52),其中20例病理Ⅰ～Ⅱ级的星形细胞瘤无突变,32例Ⅲ～Ⅳ级的星形细胞瘤中有8例发生点突变,突变率25%(8/32),两者相较,相差显著(P<0.05)。结论人脑星形细胞瘤中存在PTEN/MMAC基因第五、第八外显子点突变。这可能是肿瘤恶性进展的重要事件之一。 Objective To investigate the point mutations of exon5and exon8of the PTEN/MMAC gene and their roles in the development of human astrocytomas.Methods The mutations of the exon5and exon8point of the PTEN/MMAC gene were deter-min ated by multiplex polymerase chain reaction(PCR)and silver PCR-single-strand conformation polymorphism(PCR-SSCP)in52cases of astrocytomas,7cases of normal brain tissues and3cases of normal peripheral blood samples.Results Mutations of the exon5and exon8point of PTEN/MMAC gene were identified in8of52cases of astrocytomas(15.4%).The point mutation occurred in8of32cases of the gradeⅢ～Ⅳastrocytomas but in none of20cases of low-grade(Ⅰ～Ⅱ)astrocytomas.There was a significant difference in the mutation rate between the two groups(P<0.05).Conclusion These data suggest that the point mutations of the exon5and exon8of PTEN/MMAC gene probably play an important role in the malignant development of the astrocytomas.[
作者 龙江 朱贤立 张亚平 杨志敏 赵洪洋 李玉保
机构地区 昆明医学院第一附属医院神经外科 华中科技大学同济医学院附属协和医院神经外科 中国科学院昆明动物研究所
出处 《中国临床神经外科杂志》 2003年第1期38-40,共3页 Chinese Journal of Clinical Neurosurgery
关键词 脑膜瘤 表皮生长因子 细胞增殖核抗原 免疫组织化学 Astrocytoma PTEN/MMAC gene Point mutation
分类号 R739.45 [医药卫生—肿瘤] Q754 [生物学—分子生物学]
  • 相关文献

参考文献6

  • 1[1]Li J, Yen C, Lian D, et al . PTEN, a putative protein tyrosine phosphate gene mutated in human brain, breast and prostate cancer [J]. Science, 1997, 275: 1943～1947.
  • 2[2]Steck PA, Pershouse MA, Jasser SA, et al . Identification of a candidate tumor suppressor gene MMAC, at chromosome 10q23.3 that is mutated in multiple advanced cancers [J]. Nature Genet, 1997, 15: 356～362.
  • 3[3]Maier D, Zhang ZW, Taylor E, et al . Somatic deletion mapping on chromosome 10 and sequence analysis of PTEN/MMAC point to the 10q23-26 region as the primary target in low and high-grade gliomas [J]. Oncogene, 1999, 56: 3331～3335.
  • 4[4]Whang YE, Wu XY, Suzuki H, et al . Inactivation of the tumor suppressor PTEN/MMAC in advanced human prostate caner through loss of expression [J]. Proc Natl Acad Sci USA, 1998, 95: 5246～5250.
  • 5[5]Simpson L, Parsons R. PTEN: life as tumor suppressor [J]. Exper Cell Res, 2001, 264: 29～41.
  • 6[6]Hlobilkova A, Guldberg P, Thullberg M, et al . Cell cycle arrest by the PTEN tumor suppressor is target cell specific and may require protein phosphatase activity [J]. Exper Cell Res, 2000, 256: 571～577.

同被引文献12

  • 1张福林.胶质瘤WHO新分类的分子遗传学基础[J].中国神经肿瘤杂志,2003,1(4):193-199. 被引量：6
  • 2Steck PA, Pershouse, MA, Jasser SA, et al. Identification of a candidate tumor suppressor gene MMAC1 at chromosome 10q23.3 that is mutated in multiple advanced cancers [J] .Nat Genet, 1997, 15: 356～362.
  • 3Liaw D, Eng C, Peacocke M, et al . Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome [J]. Nat Genet, 1997, 16: 64～67.
  • 4Podysypanina K, Ellenson LH, Nemes A, et al. Mutation of PTEN/MMAC1 in mice causes neoplasia in multiple organ systems [J]. Proc Nall Genet USA, 1999, 96: 1563～1568.
  • 5LI J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain [J]. Science,1997, 275, 1943～1947.
  • 6陈华淬.蛋白质磷酸化与去磷酸化.见:刘景生,主编.细胞信息与调控[M].第1版.北京:北京医科大学、中国协和医科大学联合出版社,1998.228～247.
  • 7Tada K, Shiraishi S, Kamiryo T, et al . Analysis of loss of heterozygosity on chromosome 10 in patients with malignant astrocytic tumors: correlation with patient age and survival [J]. J Neurosurg, 2001, 95: 651～659.
  • 8Sano T, Lin H, Chen XS, et al . Differential expression of MMAC/PTEN in glioblastoma multiforme: relationship to localization and prognosis [J]. Cancer Res, 1997, 59: 1820～1824.
  • 9Wang SI, Parson R, Ittmann M, et al . Homozygous deletion of the PTEN tumor suppressor gene in a subset of prostate adenocarcinomas [J]. Clin Cancer Res, 1998, 56:811～815.
  • 10Smith JS, Jenkins RB. Genetic alterations in adult diffuse glioma: occurence, significance, and prognostic implications [J]. Front biosci, 2000, 5: 213～231.

引证文献2

二级引证文献3

中国临床神经外科杂志
2003年 第1期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部