| Project/Area Number |
17019055
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| Research Category |
Grant-in-Aid for Scientific Research on Priority Areas
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| Allocation Type | Single-year Grants |
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| Review Section |
Biological Sciences
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| Research Institution | Health Sciences University of Hokkaido (2007-2009)
Nagasaki University (2005-2006) |
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Principal Investigator |
NIIKAWA Norio Health Sciences University of Hokkaido, 個体差健康科学研究所, 教授 (00111170)
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| Co-Investigator(Kenkyū-buntansha) |
OHTA Tohru 北海道医療大学, 個体差健康科学研究所, 准教授 (10223835)
KINOSHITA Akira 長崎大学, 大学院・医歯薬学総合研究科, 助教 (60372778)
YOSHIURA Koh-Ichiro 長崎大学, 大学院・医歯薬学総合研究科, 教授 (00304931)
MIWA Nobutomo 長崎大学, 大学院・医歯薬学総合研究科, 助教 (30419626)
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| Project Period (FY) |
2005 – 2009
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| Project Status |
Completed (Fiscal Year 2009)
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| Budget Amount *help |
¥106,200,000 (Direct Cost: ¥106,200,000)
Fiscal Year 2009: ¥20,400,000 (Direct Cost: ¥20,400,000)
Fiscal Year 2008: ¥20,400,000 (Direct Cost: ¥20,400,000)
Fiscal Year 2007: ¥21,700,000 (Direct Cost: ¥21,700,000)
Fiscal Year 2006: ¥21,900,000 (Direct Cost: ¥21,900,000)
Fiscal Year 2005: ¥21,800,000 (Direct Cost: ¥21,800,000)
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| Keywords | 染色体異常 / 疾患遺伝子 / 連鎖解析 / 単因子疾患 / 多因子疾患 / 関連解析 / 疾患感受性遺伝子 / 因子疾患 / 染色体 / 多指趾症 / 合指症 / 歌舞伎症候群 / 遺伝子単離 / 特発性手掌多汗症 / 一過性運動誘発性コレオアテトーシス / 染色体構造異常 / 家族性心房中隔欠損症 / Kabuki make-up症候群 / 精神遅滞症 |
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| Research Abstract |
We tried to isolate or identify disease-related genes by genomic-medicine methods using families with monogenic, oligogenic or polygenic disorders. During a five-year period of study, we identified the gene determining human earwax type, gene responsible for a congenital cataract, and those candidate for familial Japan fever, split hands and feet, and congenital absence of nails. We mapped gene loci for primary palmar hyperhidrosis, familial blepharoptosis, cleft soft palate, familial arteriovenous malformation, paroxysmal kinesigenic choreoathetosis, and Dupuytren contracture. We also identified a novel mutation in a family with familial atrial septal defect by a candidate gene analysis. However, although chromosomal translocation breakpoints were analyzed in patients with Kabuki syndrome, congenital arhinia and type 2 diabetes mellitus, any causative genes were found.
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