亚显微水平CNVS致病的分子机制及其检测方法与新进展

Molecular Mechanisms and Detection Methods of Pathogenic Submicroscopic CNVs and Recent Advances

拷贝数变异(copy number variations,CNVs)是由基因组发生重排引起的,通常指长度为几千个碱基对以上的基因组片段的拷贝数增加或减少,表现为亚显微水平的缺失、重复和片段性重复等。CNVs与许多疾病相关,是导致人类出生缺陷、发育疾病和癌症等疾病的重要机制之一。深入了解基因组中的拷贝数变异对于更好地理解基因与疾病之间的关系、遗传-环境相互作用以及基因组变异与物种进化之间的关联具有重要意义。因此,与CNVs相关的疾病研究已经成为当前医学遗传学研究中的重要领域。对亚显微水平CNVs致病的分子机制、检测方法以及最新进展进行综述。

Copy number variations(CNVs)are genomic rearrangements characterized by the increase or decrease in copy numbers of genomic segments that are typically longer than a few thousand base pairs.They are submicroscopic deletions and duplications,and segmental duplications.CNVs are associated with various diseases such as human birth defects,developmental disorders,and cancer,representing one of the significant mechanisms underlying these conditions.A comprehensive understanding of CNVs in the genome is essential for better comprehension of the relationship between genes and diseases,genetic⁃environmental interactions,and the correlation between genomic variations and species evolution.Therefore,research on diseases related to CNVs has emerged as a critical area in medical genetics.This review summarizes the molecular mechanisms,detection methods,and recent advances in the pathogenicity of submicroscopic CNVs.