| Project/Area Number |
23791323
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Psychiatric science
|
|---|
| Research Institution | Hamamatsu University School of Medicine |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2011 – 2012
|
| Project Status |
Completed (Fiscal Year 2012)
|
| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
|
|---|
| Keywords | 臨床精神分子遺伝学 / 児童・思春期精神医学 / 自閉症 / コピー数多型 / ゲノムワイド解析 / CNV / 欠失 / de novo / マイクロアレイ |
|---|
| Research Abstract |
Aim of the current study was first to examine the DNA copy number variations (CNVs) that could be associated with autism in Japanese population. We analyzed samples from subjects with autism and their parents (trio) with Affymetrix Genome Wide SNP 6.0 array. A total of 150 trio samples were analyzed. Only the samples which passed the required quality control (contrast QC >0.4) were used in subsequent analyzes. Averages of 39.37 autosomal CNVs are detected per patient samples, after all the QC corrections. There is no significant difference in the total number/average size of CNVs per sample between patients and their parents. However, the percentage of deletions in the total length of CNVs is 42.5% in case of patients, whileit is only 34% and 28.4% in father and mother samples respectively. Above 90% of the CNVs in children are found to be inherited; almost equally from both the parents. Among the CNVs which are spanning genes, 74.5% are deletions in the case of de novo events; it’s only 53% in inherited cases. Toidentify the most important de novo events, the CNVs are further screened based on the mean LRR values of all the probes within a CNV. Finally, 142 highly confident de novo CNVs were identified; among them 124 are spanning exons, and hence supposed to have some functional significance. Among these 124 CNVs, 18 are found be rare de novo events. These 18 rare de novo events were validated with qPCR using SyBr Green. 12 of them were found to be true positive calls while remaining werefalse calls. A few potential candidate genes with a possible role in neurodevelopment were identified.
|
