Elucidation of genetic factors for Parkinson disease employing next-generation sequencer
| Project/Area Number |
23790384
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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 |
Human genetics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
MITSUI Jun 東京大学, 医学部附属病院, 助教 (70579862)
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| Project Period (FY) |
2011 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 関連解析 / ゲノム / 疾患感受性遺伝子 |
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| Research Abstract |
We applied resequencing of pooled DNA using a next-generation sequencer to identification of disease associations with rare variants. Sixteen sets of pooled DNAs from eight pooled DNA samples were prepared. Each set of pooled DNAs was subjected to polymerase chain reaction to amplify the target gene, pooled into one tube with barcode indexing, and then subjected to extensive sequence analysis using theIllumina GAIIx. With the optimization of data processing to solve integer programming problems, we were able to extract novel variants from 64 samples.
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Report
(3 results)
Research Products
(21 results)
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[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013
Author(s)
Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
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Journal Title
PLoS One
Volume: 8
Issue: 2
Pages: e56120-e56120
DOI
Related Report
Peer Reviewed
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[Journal Article] CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.2012
Author(s)
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.
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Journal Title
Am J Med Genet B Neuropsychiatr Genet.
Volume: 159B(8)
Issue: 8
Pages: 951-7
DOI
Related Report
Peer Reviewed
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[Journal Article] Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.2012
Author(s)
Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S.
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Journal Title
Neurogenetics.
Volume: 13(3)
Issue: 3
Pages: 237-43
DOI
Related Report
Peer Reviewed
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[Journal Article] Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.2012
Author(s)
Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.
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Journal Title
Ann Neurol.
Volume: 71(1)
Pages: 84-92
Related Report
Peer Reviewed
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