Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization.
- VernacularTitle:用高分辨率微阵列比较基因组杂交分析一个孤独症家系的新生拷贝数变异
- Author:
Wen-zhi HE
1
;
Wei-qiang LIU
;
Xin-qi ZHONG
;
Xiao-lin CHEN
;
Shao-ying LI
;
Hui-min ZHANG
;
Qing LI
;
Qi-liang CUI
;
Xiao-fang SUN
Author Information
- Publication Type:Journal Article
- MeSH: Child Development Disorders, Pervasive; genetics; Child, Preschool; Comparative Genomic Hybridization; methods; DNA Copy Number Variations; Female; Humans; Male
- From: Chinese Journal of Medical Genetics 2012;29(3):266-269
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze de novo copy number variations (CNVs) in a Chinese family affected with autism spectrum disorders (ASD).
METHODSAffymetrix Cytogenetics Whole Genome 2.7M Array assay was performed to identify potential CNVs in four members from the family.
RESULTSA total of 89 de novo CNV regions were identified in the autistic siblings. The CNV regions in total have exceeded 1/1000 of the lengths of chromosomes 5, 11 and 14. In addition, de novo CNV regions were also identified at 3p26.1, 4q22.2, and 5p15.2, which encompassed 10 genes associated with nerve development including GRM7, GRID2 and CTNND2.
CONCLUSIONA number of nerve development associated genes were at the de novo CNV sites, which may provide new clues for genetic research of ASD. High-resolution array-comparative genomic hybridization is an effective method for detecting submicroscopic chromosomal imbalances.
