基因拷贝数变异与人类疾病

Copy number variation and human diseases

拷贝数变异(copy number variation,CNV)是人类遗传多样性的一类重要形式。在前期的研究中,人们通过寡核苷酸分型、比较基因组杂交以及测序等技术手段,在人类基因组中鉴定出了大量拷贝数变异位点。这些变异可能是由于基因组重组或复制过程中的差错而产生。CNV在人群中的覆盖率远远高于寡核苷酸多态性(single nucleotide polymorphism,SNP),它们可以通过多种机制改变基因的表达水平,如基因剂量效应、基因断裂-融合效应,以及远距调控效应,进而引起多种人类复杂疾病。认识基因组中的拷贝数变异对于我们更好地认识基因与疾病的关系、遗传-环境因素的相互作用,以及基因组变异与物种进化的关系具有重要的意义。

Copy number variation （CNV） is an important form of human genetic polymorphisms. In previous studies, researchers have identified amounts of copy number variation by technologies such as single nucleotide genotyping, comparative genomic hybridization, and genome sequencing. Copy number variation may be derived from errors during genome recombination or replication, which covers much more genome range than single nucleotide polymorphisms （SNP）. CNV may affect gene expression level by multiple ways such as gene dosage, gene fusion or disruption, and long-range regulation effects. Research on gene copy number variation may facilitate the understanding about the heredity-environment interaction on human pathogenesis, and be valuable to uncover the association between genomic variation and species evolution.