【摘要】 基因组结构变异分为两个层次:显微水平(microscopic)和亚显微水平(submicroscopic)。显微水平的基因组结构变异主要是指显微镜下可见的染色体畸变,包括整倍体或非整倍体、缺失、插入、倒位、易位、脆性位点等结构变异。亚显微水平的基因组结构变异是指DNA片段长度在1Kb-3Mb的基因组结构变异,包括缺失、插入、重复、重排、倒位、DNA拷贝数目变化(copy numbervariation,CNV),这些统称为CNV或者CNP(copy number polymorphisms,CNP)。对CNV的研究能够帮助研究者建立遗传检测假说,进而发现疾病易感基因,同时加深对表型变异的理解,为今后研究人类生物功能、进化、疾病奠定基础。本文主要从CNV的研究历史、分子机制、研究方法、研究意义等四个方面进行综述.。更多还原

【Abstract】 Two types of gene structural variations are defined as microscopic variations and submicroscopic variations.The genomic structure of micro-level variations that can be seen under the microscope mainly refers to the chromosome aberrations,including euploid or aneuploid,deletions,insertions,inversions,translocations,fragile sites and other structural variations.Submicroscopic structural variations include deletions,insertions,duplications,rearrangements,inversions,translocations or copy number variations(CNV) in large DNA segments(1Kb-3Mb).These are collectively referred as CNV or CNP(copy number polymorphisms,CNP).Researches on CNV could establish the genetic testing hypothesis,detect the disease susceptible genes,and understand the phenotype variations better.Besides,CNV would provide the basis for determining how genomic diversity impacts the biological functions,the evolution and human diseases.Here,we review the CNV research history,molecular mechanisms,related research methods,and the research significance.更多还原