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| 人类基因组结构变异 | |
| 引用本文： | 何永蜀,张闻,杨照青.人类基因组结构变异[J].遗传,2009,31(8):771-778. |
| 作者姓名： | 何永蜀 张闻 杨照青 |
| 作者单位： | 1. 昆明医学院生物学教研室,昆明,650031 2. 昆明医学院寄生虫学教研室,昆明,650031 |
| 基金项目： | 国家自然科学基金项目 |
| 摘 要： | 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。 |
| 关 键 词： | 人类基因组 结构变异 |
| 收稿时间： | 2008-12-31 |
| 修稿时间： | 2009-02-06 |
Structural variation in the human genome |
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| HE Yong-Shu,ZHANG Wen,YANG Zhao-Qing.Structural variation in the human genome[J].Hereditas,2009,31(8):771-778. | |
| Authors: | HE Yong-Shu ZHANG Wen YANG Zhao-Qing |
| Affiliation: | 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 phenotype, disease, and evolution. |
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