Yan Guodi, Liang Yayong, Wang Ying, Huang Wei, Zou Xiaobing, Zhong Nanbert
Department of Medical Genetics, Peking University Health Science Center, Beijing, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):654-8. doi: 10.3760/cma.j.issn.1003-9406.2010.06.011.
To study the copy number variation (CNV) in a Chinese Han autistic spectrum disorder (ASD) pedigree.
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.
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.
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.
研究一个中国汉族自闭症谱系障碍（ASD）家系中的拷贝数变异（CNV）。
该家系包括六个兄弟姐妹，其中三个患有自闭症。用EBV使该家系的B淋巴细胞永生化，并用作研究材料。进行核型分析和Affymatrix 500k SNP芯片检测，以评估家系成员中的遗传缺陷。
核型分析表明染色体正常。然而，15q11位点在该家系所有自闭症兄弟姐妹中被定位为新生CNV区域。在该位点，19827281 - 19998230区域的片段显示CNV“缺失”，而另外三个分别为37 kb、1316 kb和37 kb的片段显示CNV“增加”。
在本研究中，CNV增减位点中的嗅觉基因OR11K1P、OR4Q1P、OR4H6P、OR4M2等可能为自闭症谱系障碍的遗传学研究提供新线索。
