国际肿瘤学杂志

国际肿瘤学杂志 ›› 2012, Vol. 39 ›› Issue (8): 563-566.

• 综述 •    下一篇

DNA拷贝数变化与肿瘤

夏一芳,潘继红,常晓天   

  1. 济南，山东省医学科学院生物医药技术研究中心；济南大学山东省医学科学院医学与生命科学学院
  • 出版日期:2012-08-29 发布日期:2012-08-29
  • 通讯作者: 常晓天 E-mail:chang-xt@163.com

Copy number variations of DNA and neoplasms

 XIA  Yi-Fang, PAN  Ji-Hong, CHANG  Xiao-Tian   

  1. Research Center for Medicinal Biotechnology, Shandong Academy of Medical Sciences；School of Medicine and Life Sciences，University of Jinan and Shandong Academy of Medical Sciences, Jinan 250062,  China
  • Online:2012-08-29 Published:2012-08-29
  • Contact: CHANG Xiaotian E-mail:chang-xt@163.com

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被引次数

7

摘要： DNA拷贝数变化（CNV）是一种介于1 kb至3 Mb的DNA片段的变异, 在人类基因组中广泛分布，极大地丰富了基因组遗传变异的多样性。研究发现，大部分CNV都与复杂疾病密切相关。CNV如果发生在肿瘤相关基因序列内部或周围可能引起癌基因激活、抑癌基因失活，最终导致肿瘤的发生。CNV通过改变基因剂量、调节基因活性影响基因表达、表型差异和表型适应，从而引起肿瘤以及其他遗传疾病。研究CNV对于探索染色体重组、基因组进化、基因表达以及多种复杂疾病尤其是肿瘤的发病机制有很大帮助。

关键词: 肿瘤, 变异(遗传学), 疾病遗传易感性

Abstract: The DNA copynumber variant  (CNV) is a kind of segments of DNA ranging from 1 kb to 3 Mb that is present in a variable number of copies. CNVs widely distribute across the human genome, and dramatically increases genetic diversity. In recent years，researches have found that most CNVs are closely related to complex diseases. If a cancer gene is directly encompassed or overlapped by a CNV, it may lead to activation of oncogenes or inactivation of tumor suppressor genes, and finally results in tumorigenesis. CNVs can affect gene expression, phenotype differences and phenotypic adaptations by changing gene dosages and gene activities，and then sequentially lead to tumor or any other genetic dieases. Investigating CNVs is apparently helpful for studing chromosome recombination, genomic evolution, gene expression and the pathogenesis of multiple complex diseases especially tumor.

Key words: Neoplasms, Variation (genetics), Genetic predisposition to disease