Yale University.
Child Dev. 2013 Jan-Feb;84(1):34-48. doi: 10.1111/cdev.12051. Epub 2013 Jan 13.
Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects of structural variation on normal child development, but such effects could be of considerable significance. This review provides an overview of the phenomenon of structural variation in the human genome sequence, describing the novel genomics technologies that are revolutionizing the way structural variation is studied and giving examples of genomic structural variations that affect child development.
人类基因组序列的结构变异是指 DNA 序列大小从大约 1000 到数百万个碱基对的插入、缺失或重排。在过去的几年中,结构变异已经被证明在人类基因组中比以前认为的更为常见。目前,人们对结构变异对正常儿童发育的影响知之甚少,但这种影响可能具有相当重要的意义。本文综述了人类基因组序列结构变异的现象,描述了正在彻底改变研究结构变异的方式的新型基因组学技术,并举例说明了影响儿童发育的基因组结构变异。