Abstract: Copy number variation(CNV) is increasingly recognized as a source of inter-individual differences in genome sequence and is proposed as a driving force for genome evolution and phenotypic variation.Many CNVs result in different levels of gene expression, which may account for a significant proportion of normal phenotypic variation and human diseases.This review unveiled the research process and study strategy of CNVs.Subsequently, the potential mechanisms of CNV formation and its forensic applications were discussed.In addition, the first-generation copy number variation map of the human genome was introduced, which demonstrated that DNA copy number variation was associated with specific chromosomal rearrangements and genomic disorders.

Key words: forensic genetics, copy number variation, genome

摘要： 基因拷贝数变异越来越被认为是个体之间在基因组序列差异上的一个重要源泉,是研究基因组进化和表型差异的一个重要因素。许多关于CNV的研究结果表明,拷贝数变异可导致不同程度的基因表达差异,对正常表型的构成及疾病的发生发展具有一定作用。在总结基因拷贝数变异的认识过程和研究策略的基础上,分析了拷贝数变异的形成和作用机制,介绍了第一代人类基因组拷贝数变异图谱,阐述了拷贝数变异研究的法医学意义,提示在探索疾病相关及法医学个体识别的遗传变异时不能错失拷贝数变异这一基因组多样性的新形式。

关键词: 法医遗传学, 拷贝数变异, 基因组