人类基因组结构变异-遗传.PDF

HEREDITAS (Beijing) 2009 8 , 31(8): 771―778 ISSN 0253-9772 综 述 DOI: 10.3724/SP.J.1005.2009.00771 人类基因组结构变异 1 1 2 何永蜀 , 张闻 , 杨照青 1. , 650031; 2. , 650031 基因组结构变异通常是指基因组内大于 1 kb 的DNA 片段缺失、插入、重复、倒位、易位以及DNA 拷 贝数目变化(CNVs) 。人类基因组结构变异涉及数千片段不连续的基因组区域, 含数百万 DNA 碱基对, 可含数 个基因及调控序列, 多种基因功能因此缺失或改变, 导致机体表型变化、疾病易感性改变或发生疾病。对基因 组结构变异的研究, 有助于用动态的观点全面分析基因组遗传变异得到整合的基因型, 理解结构变异的潜在医 学作用及机体整体功能的复杂性。文章从人类基因组结构变异的类型、研究方法, 对个体表型、疾病及生物进 化的影响等方面综合阐述人类基因组结构变异的最新研究进展。 人类基因组; 结构变异 Structural variation in the human genome 1 1 2 HE Yong-Shu , ZHANG Wen , YANG Zhao-Qing 1. Department of Biology, Kunming Medical College, Kunming 650031, China; 2. Department of Parasitology, Kunming Medical College, Kunming 650031, China Abstract: Genomic structural variation is generally defined as deletions, insertions, duplications, inversions, transloca- tions or copy number variation (CNV) in large DNA segments (1 kb). The structural variation in an individual genome includes thousands of discrete regions, spans millions of base pairs, and encompasses numerous entire genes and their regu- latory regions. This results in missing or change of gene functions, and subsequently leads to phenotypic changes, disease susceptibilities or induction of diseases. Research on genomic structural variation is useful in analyzing the integrated genotype with genomic variation and understanding the potential medical effects and the entire function of the organism. Here, we reviewed the latest research progresses of the types of human genomic structural variants and the methods for disclosing these variants, as well as the impact of the variants on individual pheno