Association of common copy number variations with diseases.

VernacularTitle:常见拷贝数变异与疾病的关联研究
Author: Fei YANG ¹ ; Pengbo CAO ; Gangqiao ZHOU
Author Information

1. State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410083, China. zhougq114@126.com.
Publication Type:Journal Article
MeSH: DNA Copy Number Variations; Genetic Predisposition to Disease; Humans
From: Chinese Journal of Medical Genetics 2016;33(3):388-391
CountryChina
Language:Chinese
Abstract: Genomic polymorphisms come in various forms including single nucleotide variations, translocations, insertions and copy number variations (CNVs). As a form of structural variation, the CNVs comprise common and rare forms based on their populational frequencies. Studies have demonstrated that certain CNVs are associated with risks for neuro-developmental diseases, viral infections, chronic inflammations, and cancers. With the development of high-resolution genome typing technologies such as microarrays and whole genome sequencing, the human genomic CNVs map has been continuously improved and refined. In-depth study of CNVs not only can provide comprehensive understanding for their structural variations and genetic evolution, but also provide new insights into genetic factors contributing to such diseases. In this paper, the general characteristics, pathogenesis and detection methods for the CNVs, as well as their association with human diseases are reviewed.