Copy number variation analysis of a Chinese Han family with autism spectrum disorder / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the copy number variation (CNV) in a Chinese Han autistic spectrum disorder (ASD) pedigree.</p><p><b>METHODS</b>The pedigree involved six siblings, and three of them were autistic. B lymphocytes of the pedigree were immortalized with EBV and used as studying materials. Karyotyping and Affymatrix 500k SNP chip assay were performed to assess the genetic defects among the members of the pedigree.</p><p><b>RESULTS</b>Karyotyping indicated that the chromosomes were normal. However, the 15q11 locus was located as de novo CNV region in all autistic siblings of the pedigree. In this locus, the fragment in 19827281-19998230 illustrated "loss" of CNV, while other three fragments with 37 kb, 1316 kb and 37 kb indicated "gain" of CNV.</p><p><b>CONCLUSION</b>In this study, olfactory genes OR11K1P, OR4Q1P, OR4H6P, OR4M2, etc. in the sites with loss and gain of CNV may provide a new clue for genetic research of autism spectrum disorder.</p>