Carter Nigel P
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Nat Genet. 2007 Jul;39(7 Suppl):S16-21. doi: 10.1038/ng2028.
The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are variable in copy number, and this diversity is likely to be responsible for a significant proportion of normal phenotypic variation. Current challenges involve developing methods not only for detecting and cataloging CNVs in human populations at increasingly higher resolution but also for determining the association of CNVs with biological function, recent human evolution, and common and complex human disease.
DNA拷贝数变异（CNV）与特定基因功能及人类疾病之间的关联早已为人所知，但这种变异形式的广泛范围和普遍性直到最近才得到充分认识。使用微阵列技术的最新研究表明，人类基因组中多达12%以及数千个基因在拷贝数上是可变的，这种多样性很可能是正常表型变异的很大一部分原因。当前的挑战不仅包括开发分辨率越来越高的方法来检测和编目人类群体中的CNV，还包括确定CNV与生物学功能、近期人类进化以及常见和复杂人类疾病之间的关联。
