单基因遗传病与拷贝数变异的研究进展

Research Progress in Pathogenic Copy Number Variations and Monogenic Disease

拷贝数变异(CNV)是广泛存在于人类基因组的大片段结构变异,其在遗传病发病中的作用越来越受到重视。研究发现,CNV可通过影响基因的表达量、改变基因产物的结构,甚至产生新的融合基因而参与疾病的发生和进展。单基因遗传病是研究遗传变异与疾病关系的天然模型,在单基因病家系中克隆、鉴定致病CNV对研究其致病机制有重要意义。该文主要围绕CNV与单基因病的关系进行综述,并分析CNV的主要致病机制。

Copy number variation （CNV） is a form of？ structural variation that widely exists in the human genome. In the past few years, CNV received more and more attentions. The pathogenic mechanisms of CNV might involve gene expression quantity, gene disruption, gene fusion and position effects. Monogenic disease is a natural model to study the relationship between genetic variation and diseases, so it＇s important to identify pathogenic CNV in monogenic disease families. Here is to make a review of the relationship between CNV and monogenic disease,and discuss the main pathogenic mechanisms of CNV.