Copy number variation analysis in Japanese children with Autsim Spectrum Disorder by Affymetrix Genome-Wide Human SNP Array 6.0.

Autism spectrum disorder (ASD) is an innate neurodevelopmental disorder characterized by impairments in social communication/interaction, repetitive and restrictive behavior. Copy number variation (CNV) is a one of the structural variation of the genomic sequence, including large multiplications and deletions ranging from kb to Mb of DNA. These multiplication-deletion provide genomic diversity, while CNV affects the amount of gene products or transcriptional regulation, and result in strong association with biological process, metabolism and disease. In facts, many studies reported that the mapping of CNVs which strongly associated with ASD. The subjects of this study were the community-based 5 years old children because they might be able to except acquired effects after birth as much as possible and focus on the genetic background, and there are possibilities that the results will be specific to the Japanese patients with ASD. Genomic DNA from peripheral blood were isolated from 124 (boys: 62, girls: 62) healthy control subjects and 68 (boys: 45, girls: 23) patients with ASD.