2013 Fiscal Year Final Research Report
Analysis of genetic inheritance in autism spectrum disorders by exome sequencing
| Project/Area Number |
24791199
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Psychiatric science
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| Research Institution | The University of Tokyo |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 児童思春期精神医学 / 自閉症スペクトラム障害 |
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| Research Abstract |
We selected a multiplex family with autism spectrum disorder, for exome analysis. The family includes a proband, monozygotic twin, father, sister and a brother with Autism spectrum disorder. Exome sequencing were performed on all eight family members. Genomic DNA was captured on an Agilent sure select human all exon kit following the manufacturer's protocols. Captured libraries were sequenced on the Illumina Hiseq 2000. There were 116,607 single nucleotide variants (cSNVs) called in the proband with Autism spectrum disorder. After filtering for nonsynonymous substitutions, database SNPs (db137), and the cSNVs which were called in non affected subjects, and limiting the cSNVs which were shown on five ASD family members, seven cSNVs remained.
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[Journal Article] Altered Metabolites in the Plasma of Autism Spectrum Disorder : A Capillary Electrophoresis Time-of-Flight Mass Spectroscopy Study2013
Author(s)
Kuwabara H, Yamasue H, Koike S, Inoue H, Kawakubo Y, Kuroda M, Takano Y, Iwashiro N, Natsubori T, Aoki Y, Kano Y, Kasai K
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Journal Title
PloS one
Volume: 8(9)(Epub)
Pages: e73814
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