Contribution of large scale genomic copy number variation in the pathogenesis of congenital disorders
Project/Area Number |
19591225
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Tokyo Women's Medical University |
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)
|
Project Period (FY) |
2007 – 2008
|
Project Status |
Completed (Fiscal Year 2008)
|
Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2007: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
|
Keywords | 遺伝子 / ゲノム / 人類学 / 発生・分化 / マイクロアレイ / Pelizaeus-Merzbacher病 / アレイCGH / ゲノムコピー数多型 / fiver-FISH法 / ゲノム病 / CGHアレイ / Fiver-FISH法 |
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。
|
Report
(3 results)
Research Products
(106 results)
-
-
-
-
-
-
[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
-
Journal Title
American Journal of Medical Genetics 146A巻
Pages: 1158-1165
Related Report
Peer Reviewed
-
-
-
[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
-
Journal Title
American Journal of Medical Genetics 146A
Pages: 1158-1165
Related Report
Peer Reviewed
-
-
-
-
-
[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
-
Journal Title
American Journal of Medical Genetics (印刷中)
Related Report
Peer Reviewed
-
-
-
[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
-
Journal Title
American Journal of Human Genetics 81巻
Pages: 835-841
Related Report
-
-
[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
-
Journal Title
American Journal of Human Genetics 81
Pages: 835-841
Related Report
Peer Reviewed
-
-
[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
-
Journal Title
Brain and Development (in press)
Related Report
Peer Reviewed
-
-
-
-
[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
-
Journal Title
Journal of Medical Genetics (in press)
Related Report
Peer Reviewed
-
-
-
[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.
-
Journal Title
Journal of Medical Genetics (印刷中)
Related Report
Peer Reviewed
-
[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, Yamamoto T
-
Journal Title
Brain and Development (印刷中)
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
[Presentation] C症候群の原因解析2007
Author(s)
柳 久美子, 要 匡, 知念安紹, 蒔田芳男, 岡本伸彦, 前原博樹, 久保田義顕, 尾池雄一, 山本俊至, 黒澤健司, 福嶋義光, Axel Bohring, John Opitz M, 吉浦孝一郎, 新川詔夫, 成富研二
Organizer
日本人類遺伝学会第52回大会
Place of Presentation
東京
Related Report
-
-
-
-
-
-
-
[Presentation] 染色体転座切断点解析によるOpitz三角頭蓋症候群の原因同定と病態解析2007
Author(s)
要 匡, 柳 久美子, 知念安紹, 蒔田芳男, 前原博樹, 岡本伸彦, 山本俊至, 黒澤健司, 福嶋義光, Opitz JM, 吉浦孝一郎, 新川詔夫, 成富研二
Organizer
第30回日本分子生物学会・第80回日本生化学会大会合同大会
Place of Presentation
横浜
Related Report
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-