Copy number variation and mosaicism
Copy number variation and mosaicism
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DOI：
10.1159/000184717
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发表时间：
2008-01-01
影响因子：
1.7
通讯作者：
White, S. J.
中科院分区：
文献类型：
--
作者：
Notini, A. J.;Craig, J. M.;White, S. J.
嵌合现象是一个生物体中存在的细胞，尽管来自单个受精卵，但具有不同的遗传组成。其结果取决于受影响细胞的数量和类型以及所涉及的特定DNA。已知有几种疾病会发生嵌合现象，但目前观察到的频率可能被低估了，因为很难检测到仅一部分细胞的变化。技术的最新进展使人们对各种形式的镶嵌现象的频率和机制有了更深入的了解。这篇综述将涵盖不同的技术，可用于检测拷贝数变异（CNV）的马赛克形式，并描述了一些见解，不同的疾病的真实频率和机制负责体细胞重排。最后将讨论最近在同卵双胞胎中描述的CNV的含义，以及镶嵌CNV的世界中仍有待阐明的内容。版权所有（c）2009 S. Karger AG，巴塞尔
Mosaicism is the presence of cells within an organism that have a different genetic composition despite deriving from a single zygote. The consequence of this depends on the number and type of cells that are affected as well as the specific DNA involved. There are several diseases where mosaicism is known to occur, but the currently observed frequency is presumably an underestimation due to the difficulty of detecting changes in only a percentage of cells. Recent advances in technology have provided a greater insight into the frequency and mechanisms of mosaicism in all forms. This review will cover the different techniques that can be used for detecting copy number variation (CNV) in mosaic form, and describe some of the insights that different diseases have given on the true frequencies and mechanisms responsible for somatic rearrangements. It will conclude with a discussion of the implications of the recent description of CNV in identical twins, and what remains to be elucidated in the world of mosaic CNV. Copyright (c) 2009 S. Karger AG, Basel