Upgrading of an information infrastructure for Japanese genome diversity using haploid DNA materials

使用单倍体 DNA 材料升级日本基因组多样性信息基础设施

• 批准号: 20681020
• 负责人: KUKITA Yoji
• 金额: $ 16.22万
• 依托单位: Kyushu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (A)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20681020/
• 关键词: ゲノム多様性; ハプロタイプ; ゲノム; 遺伝子; 癌

We determined SNP/CNV haplotype structures by analyzing 100 complete hydatidiform moles from Japanese subjects via high-density DNA arrays. The obtained haplotype is useful as a reference for the haplotype structure of Japanese population. Furthermore, using SNP/CNV information, we analyzed one lung cancer sib-pair by whole-exome sequencing, and identified a causative CHEK2 mutation that makes the functional protein unstable.

我们通过高密度DNA阵列分析了100例来自日本受试者的完整性葡萄胎，确定了SNP/CNV单倍型结构。所获得的单倍型可作为日本人群单倍型结构的参考。此外，使用SNP/CNV信息，我们通过全外显子组测序分析了一个肺癌同胞对，并鉴定了一个导致CHEK 2突变的突变，该突变使功能蛋白不稳定。

项目成果

Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis

• DOI: 10.1007/s00384-009-0808-x
• 发表时间: 2010-03
• 期刊: International Journal of Colorectal Disease
• 影响因子: 2.8
• 作者: J. Umeno;T. Matsumoto;M. Esaki;Yoji Kukita;T. Tahira;Ritsuko Yanaru-Fujisawa;Shotaro Nakamura;H. Arima;M. Hirahashi;K. Hayashi;M. Iida

Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions.

使用从完整的氢摩尔痣获得的确定性单倍型数据评估单倍型推断，及其在分析积极选择区域的重要性。

• DOI: 10.1371/journal.pgen.1000468
• 发表时间: 2009-05
• 期刊: PLoS genetics
• 影响因子: 4.5
• 作者: Higasa K;Kukita Y;Kato K;Wake N;Tahira T;Hayashi K
• 通讯作者: Hayashi K

Assessment of the correlation between MGMT promotor methylation and clinical outcome of Glioblastoma patients

MGMT启动子甲基化与胶质母细胞瘤患者临床结局的相关性评估

• 发表时间: 2010
• 作者: Kanemoto M;et al
• 通讯作者: et al

CNV/SNP haplotype map determined using completc hydatidiform moles carrying haploidgenomes

使用携带单倍体基因组的完整葡萄胎确定 CNV/SNP 单倍型图谱

• 发表时间: 2009
• 作者: Hayashi K;et al.
• 通讯作者: et al.

Conversion of a molecular classifier obtained by gene expression profiling into a classifier based on real-time PCR: a prognosis predictor for gliomas.

• DOI: 10.1186/1755-8794-3-52
• 发表时间: 2010-11-10
• 期刊: BMC medical genomics
• 影响因子: 2.7
• 作者: Kawarazaki S;Taniguchi K;Shirahata M;Kukita Y;Kanemoto M;Mikuni N;Hashimoto N;Miyamoto S;Takahashi JA;Kato K
• 通讯作者: Kato K