Development and application of high-density genomic microarray system as a tool for human genome structural variation

高密度基因组微阵列系统作为人类基因组结构变异工具的开发与应用

• 批准号: 17019014
• 负责人: IMOTO Issei
• 金额: $ 40.77万
• 依托单位: Tokyo Medical and Dental University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research on Priority Areas
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17019014/
• 关键词: ヒトゲノム; アレイCGH; ゲノム構造異常; 先天異常; 染色体; ゲノム; アレイCGH法; BACアレイ; 潜在的コピー数異常; Copy-number variation (CNV); 遺伝疾患; ゲノムコピー数異常; Copy number variation; ゲノム一次構造異常; 癌

In order to identify genes related to pathogenesis and progression of human diseases, we developed various genomic DNA-array platforms as analytical tools for structural human genome variations, and performed analyses of cryptic copy-number alterations in patients with multiple congenital anomaly/mental retardation (MCA/MR) using these tools. Through systematic array-assisted approach and additional analyses of genes located within regions with copy-number variations, we established technical bases of genomic arrays as diagnostic tools and identified various disease-related regions/genes in patients with MCA/MR.

为了识别与人类疾病发病机制和进展相关的基因，我们开发了各种基因组DNA阵列平台作为人类基因组结构变异的分析工具，并对多发性先天性异常/智力低下（MCA/MR）患者的隐性拷贝数改变进行了分析使用这些工具。通过系统的阵列辅助方法和对位于拷贝数变异区域内的基因的额外分析，我们建立了基因组阵列作为诊断工具的技术基础，并确定了MCA/MR患者的各种疾病相关区域/基因。

项目成果

Construction of a high-density and high-resolution human chromosome Xarray for comparative genomic hybridization analysis.

构建高密度、高分辨率的人类染色体 X 阵列，用于比较基因组杂交分析。

• 发表时间: 2007
• 期刊: J Hum Genet. 52
• 作者: Hayashi S;Mizutani S;et. al.
• 通讯作者: et. al.

先天性異常症の染色体欠失の検出方法

如何检测先天性异常的染色体缺失

• 发表时间: 2008

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation

• DOI: 10.1002/ajmg.a.32433
• 发表时间: 2008-08-15
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Hayashi, Shin;Mizuno, Seiji;Inazawa, Johji
• 通讯作者: Inazawa, Johji

RGC32, a novel p53-inducible gene, is located on centrosomes during mitosis and results in G2/M arrest

• DOI: 10.1038/sj.onc.1210148
• 发表时间: 2007-02-22
• 期刊: ONCOGENE
• 影响因子: 8
• 作者: Saigusa, K.;Imoto, I.;Inazawa, J.
• 通讯作者: Inazawa, J.

Lysosomal-associated protein multispanning transmembrane 5 gene (LAPTM5) is associated with spontaneous regression of neuroblastomas.

• DOI: 10.1371/journal.pone.0007099
• 发表时间: 2009-09-29
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Inoue J;Misawa A;Tanaka Y;Ichinose S;Sugino Y;Hosoi H;Sugimoto T;Imoto I;Inazawa J
• 通讯作者: Inazawa J