| Project/Area Number |
13854024
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| Research Category |
Grant-in-Aid for Scientific Research (S)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | NAGASAKI UNIVERSITY |
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Principal Investigator |
NIIKAWA Norio NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF HUMAN GENETICS, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (00111170)
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| Co-Investigator(Kenkyū-buntansha) |
YOSHIURA Koh-ichiro NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF HUMAN GENETICS, ASSOCIATE PROFESSOR, 大学院・医歯薬学総合研究科, 助教授 (00304931)
KISHINO Tatsuya NAGASAKI UNIVERSITY, CENTER FOR FRONTIER LIFE SCIENCES, ASSOCIATE PROFESSOR, 先導生命科学研究支援センター, 助教授 (70315232)
TSUKAMOTO Kazuhiro NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT FOR MEDICAL TREATMENT, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (30253305)
MATSUMOTO Tadashi NAGASAKI UNIVERSITY, GRADUATE SCHOOL OF BIOMEDICAL SCIENCES, DEPARTMENT OF BASIC NURSING, PROFESSOR, 大学院・医歯薬学総合研究科, 教授 (70190535)
NARITOMI Kenji UNIVERSITY OF THE RYUKYUS, DEPARTMENT OF MEDICAL GENETICS, PROFESSOR, 医学部, 教授 (20101446)
FUKUSHIMA Yoshimitsu SHINSHU UNIVERSITY, DEPARTMENT OF MEDICAL GENETICS, PROFESSOR (70273084)
辻田 高宏 長崎大学, 大学院・医歯薬学総合研究科, 講師 (40304919)
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| Project Period (FY) |
2001 – 2005
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| Project Status |
Completed (Fiscal Year 2005)
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| Budget Amount *help |
¥114,010,000 (Direct Cost: ¥87,700,000、Indirect Cost: ¥26,310,000)
Fiscal Year 2005: ¥14,690,000 (Direct Cost: ¥11,300,000、Indirect Cost: ¥3,390,000)
Fiscal Year 2004: ¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
Fiscal Year 2003: ¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
Fiscal Year 2002: ¥28,340,000 (Direct Cost: ¥21,800,000、Indirect Cost: ¥6,540,000)
Fiscal Year 2001: ¥39,000,000 (Direct Cost: ¥30,000,000、Indirect Cost: ¥9,000,000)
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| Keywords | linkage analysis / single-gene disorders / gene mapping / disease genes / familial cases of genetic diseases / 家族性心房中核欠損症 / 多汗症 / 下顎前突症 / 無嗅覚症 / 心房中隔欠損症 / ハプロタイプ解析 / 家族性側索硬化症 / 無臭覚症 / 緊張性四肢麻痺 / 疾患遺伝子座 / 単一遺伝子疾患 / マイクロサテライトマーカー / 変異解析 / 疾病遺伝子 / WFS1遺伝子 / 遺伝性難聴 / ITGA3B遺伝子 |
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| Research Abstract |
This research aimed to collect many cases of single-gene disorders of unknown cause by a consortium from all of Japan and to map the disease loci and identify genes for the diseases. During a 5-year-period of the research, we performed linkage analysis of 14 such disorders (including genetic traits) and identified novel gene mutations in 8 disorders. The followings are the details of the diseases studied : (1)Retinitis pigmentosa : by linkage analysis, we assigned disease loci of 3 Japanese and 2 Thai families, and identified RPGR and NDP mutations, respectively ; (2)Engelmann disease : as a linkage analysis found two Engelmann disease families in which disease loci did not correspond the TGFB1 locus, we proposed the disease in the families is a new clinical entity, Engelmann disease type 2 ; (3)Familial hearing impairment : linkage analysis of a large family mapped the locus and identified a novel mutation ; (4)Van der Woude syndrome : the diseases of two families were both mapped to
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1q32-q41, and mutations in IRF6 were identified in each family ; (5)Anosmia : we found two large Iranian families, and mapped the disease locus within a region between D18S452 and D18S475 ; (6)Familial ASD : linkage analysis of one large family led to the disease gene localization to 8p23-p22, and mutation analysis identified a one-base deletion in GATA4 ; (7)Spastic paraplegia : linkage analysis of one big family mapped the disease to 2p23 and mutation study identified a large intragenic deltion in SPG4 ; (8)Palmoplantar hyperhydrosis : linkage analysis of 11 families assigned the disease of three families to 14q11.2, but locus heterogeneity was evident ; (9)Epidermolysis bullosa : linkage and mutation analysis of one family identified a novel mutation in COL17A1 ; (10)Human earwax trait : linkage analysis mapped the earwax locus to 16p11.2-q12.1, and subsequent association study using SNPs identified a functional SNP in ABCC11 as the earwax determinant ; (11)Familial thrombocytopenia : linkage analysis mapped the disease between D17S950 and D17S1607 ; (12)Familial amyotropic lateral sclerosis : linkage analysis of one family mapped the disease to either 1p or 17q ; (13)and(14)Familial prognathism and Familial blepharoptosis : In neither diseases, disease loci were assigned, because of locus heterogeneity was evident. Less
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