OBJECTIVETo study the copy number variation (CNV) in a Chinese Han autistic spectrum disorder (ASD) pedigree.

METHODSThe 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.

RESULTSKaryotyping 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.

CONCLUSIONIn 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.

Adolescent ; Child ; Child Development Disorders, Pervasive ; genetics ; Child, Preschool ; China ; ethnology ; DNA Copy Number Variations ; genetics ; Ethnic Groups ; genetics ; Female ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide