The progress of copy number variation and its measurement methods in autoimmune diseases
10.3760/cma.j.issn.1009-9158.2013.11.006
- VernacularTitle:拷贝数变异及其检测技术在自身免疫性疾病中的应用进展
- Author:
Ziyan WU
;
Yongzhe LI
- Publication Type:Journal Article
- Keywords:
Autoimmune diseases;
DNA copy number variations;
Genome
- From:
Chinese Journal of Laboratory Medicine
2013;36(11):987-991
- CountryChina
- Language:Chinese
-
Abstract:
Copy number variation (CNV) is one kind of structural variations,which exists extensively in human genome.In addition,it is the crucial source of inter-individual gene differences.Recently,with the successful development of gene array and gene sequencing,molecular methods for CNV testing are more and more standardizing and automating.Therefore,ongoing attentions have been attached to the effects and mechanisms of CNV in complicated diseases like autoimmune diseases.Molecular methods for CNV testing can be divided into two categories:target screening and the whole genome scanning platforms.Currently,the studies about CNV and autoimmune diseases mainly focused on systemic lupus erythematosus and rheumatoid arthritis.Considering the limitations of measurement methods and testing costs,it is still in the infant.
