基因拷贝数变异与先天性心脏病关系研究进展

Progress of the correlation between copy number variations and congenital heart disease

基因拷贝数变异(copy number variations,CNVs)是指长度介于1千碱基对和数兆碱基对间的DNA片段的重复、缺失、插入和复杂多位点的变异。基因CNVs通过改变基因活性和剂量来影响基因表达、表型差异和表型适应,可引起先天性心脏病等一系列疾病。本文就基因CNVs与先天性心脏病关系的研究进展作一综述。

Copy number variations （CNVs） are defined as duplications, deletions, insertions and complex multi-site variations of fragments of DNA with the length of a kliobase base-pairs to fewer million base-pairs. CNVs influence the gene expression by changing the gene activity and dose, phenotypic difference and phenotypic adaptation, which would result in a series of genetic diseases including congenital heart defect. This paper reviews the research progress of the correlation between CNVs and congenital heart disease.