2011 Fiscal Year Final Research Report
Target resequencing of the candidate region of the susceptibility gene for autism by using the next-generation sequencer
| Project/Area Number |
22791107
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Psychiatric science
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| Research Institution | The University of Tokyo |
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Principal Investigator |
TOCHIGI Mamoru 東京大学, 医学部附属病院, 講師 (40456116)
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| Project Period (FY) |
2010 – 2011
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| Keywords | 自閉症 / 候補遺伝子 / 次世代シークエンサー / コピー数多型(CNV) |
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| Research Abstract |
As a result of the exome sequencing of a four-generation-extending autism spectrum disorder(ASD) family, several candidate genes, which completely co-segregate with the disease, were found and may lead to a new finding. In the copy number variation(CNV) analysis of 163 trios of ASD, eight de novo CNVs(> 500kb) were found in seven trios, one of which was duplication in 15q11. 2.
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