Copy number variations and congenital heart disease
10.3760/cma.j.issn.1673-4408.2014.02.001
- VernacularTitle:基因拷贝数变异与先天性心脏病的研究进展
- Author:
Jiao WANG
- Publication Type:Journal Article
- Keywords:
Congenital heart disease;
Copy number variations;
Microarray comparative genomic hybridization;
Genetics
- From:
International Journal of Pediatrics
2014;41(2):113-116
- CountryChina
- Language:Chinese
-
Abstract:
Deletions,insertions,duplications,and complex multi-site variants,now formally termed copy number variations(CNVs),are regions larger than 1 kb that are present with variable copy numbers in comparison with the reference genome.CNVs in humans and other mammals are associated with a series of complex genetic diseases including congenital heart disease.The studies of CNVs have become hot topics.This review mainly discusses the principle of CNVs,the detection techniques and CNVs in the pathogenesis of congenital heart
