2010 Fiscal Year Final Research Report
New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray
| Project/Area Number |
20390301
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
MAKITA Yoshio Asahikawa Medical College, 医学部, 教授 (20271778)
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| Co-Investigator(Kenkyū-buntansha) |
OKAMOTO Nobuhiko 大阪府立母子保健総合医療センター(研究所), 研究員 (30416242)
MIZUNO Seiji 愛知県心身障害者コロニー発達障害研究所, 小児内科, 研究員 (20393150)
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| Co-Investigator(Renkei-kenkyūsha) |
HATA Akira 千葉大学, 医学部, 教授 (00244541)
INAZAWA Johji 東京医科歯科大学, 難治疾患研究所, 教授 (30193551)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 先天異常 / 染色体異常 / アレイCGH法 / 奇形症候群 |
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| Research Abstract |
We developed a diagnostic array(Genome Disorder Array) in order to exclude structural chromosome aberrations in patients with known chromosomal micro-deletion and micro-duplication syndromes. Genome Disorder Array version 3.0 was selected to determine the configuration. Fuji Film was released this array as the GD700. Specific phenome may lead to the construction of a new disease concept. According to phenome analysis and high-density BAC array analysis, we proposed three new syndromes with specific chromosome aberration. We collected 281 cases in three years and also proceed to establish the cell-line.
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[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2011
Author(s)
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J.
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Journal Title
J Hum Genet. 56(2)
Pages: 110-24
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[Journal Article] 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.2011
Author(s)
Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K
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Journal Title
Eur J Med Genet. 54(3)
Pages: 354-6
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[Remarks] ホームページ等
