Beckmann Jacques S, Estivill Xavier, Antonarakis Stylianos E
Department of Medical Genetics, University of Lausanne and Centre Hospitalier Universitaire Vaudois, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland.
Nat Rev Genet. 2007 Aug;8(8):639-46. doi: 10.1038/nrg2149.
A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the phenotypic expression of aneuploidies and sporadic traits, and might represent a major factor in the aetiology of complex, multifactorial traits. For these reasons, an effort should be made to discover all common and rare copy number variants (CNVs) in the human population. This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits.
人们已经发现，人类基因组具有显著且出人意料的可塑性，表现为个体间的拷贝数变异。这些结构变化构成了个体间遗传变异的主要来源，能够解释遗传性（孟德尔式和多基因）疾病的可变外显率以及非整倍体和散发性性状的表型表达变异，并且可能是复杂多因素性状病因学中的一个主要因素。基于这些原因，应当努力在人类群体中发现所有常见和罕见的拷贝数变异（CNV）。这也将使我们能够在关联研究中对单核苷酸多态性（SNP）和CNV进行系统探索，以确定导致常见疾病和复杂性状的基因组因素。
