The application of chromosomal microarray analysis in genomic diseases
10.3760/cma.j.issn.1009-9158.2017.05.003
- VernacularTitle:全基因芯片扫描分析技术在基因组疾病诊断中的应用
- Author:
Yanming WU
;
Qihua FU
;
Yongguo YU
- Keywords:
Microarray analysis;
DNA copy number variations;
Genetic diseases,inborn
- From:
Chinese Journal of Laboratory Medicine
2017;40(5):341-344
- CountryChina
- Language:Chinese
-
Abstract:
Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.
