2008 Fiscal Year Final Research Report
Contribution of large scale genomic copy number variation in the pathogenesis of congenital disorders
| Project/Area Number |
19591225
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
YAMAMOTO Toshiyuki Tokyo Women's Medical University, 国際統合医科学インスティテュート, 准教授 (20252851)
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| Project Period (FY) |
2007 – 2008
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| Keywords | 遺伝子 / ゲノム / 人類学 / 発生・分化 / マイクロアレイ |
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| Research Abstract |
ヒトゲノムには一塩基多型のような多様性があることは以前から明らかになっていたが、大規模なゲノムの断片が複数並んで繰り返し構造となっているような領域が多数存在していることが明らかになってきている。本研究では、高密度オリゴアレイによりそのような大規模なゲノムコピー数の増減を網羅的に解析し、明らかとなったゲノム領域をさらに特殊なfiber-FISH 法で可視化して確認した。
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[Journal Article] Two Patients With Atypical Interstitial Deletions of 8p23.1 : Mapping of Phenotypical Traits2008
Author(s)
Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R
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Journal Title
American Journal of Medical Genetics 146A巻
Pages: 1158-1165
Peer Reviewed
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[Journal Article] Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome2007
Author(s)
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
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Journal Title
American Journal of Human Genetics 81巻
Pages: 835-841
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[Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
Author(s)
Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, and Yamamoto T
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Journal Title
Brain and Development (in press)
Peer Reviewed
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[Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion
Author(s)
Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T
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Journal Title
Journal of Medical Genetics (in press)
Peer Reviewed
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