Genetic analysis of phytosterolemia
| Project/Area Number |
11672290
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | The University of Tokyo |
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Principal Investigator |
HASHIMOTO Yoshiaki University of Tokyo, Faculty of Medicin Lecturer, 医学部・附属病院, 講師 (40172879)
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| Co-Investigator(Kenkyū-buntansha) |
TUKAMTO Kazuhisa University of Tokyo, Faculty of Medicin Assistant, 医学部・附属病院, 助手 (20251233)
YUMOTO Masato University of Tokyo, Faculty of Medicin Assistant, 医学部・附属病院, 助手 (30240170)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2000: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1999: ¥2,300,000 (Direct Cost: ¥2,300,000)
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| Keywords | phytosterolemia / Xanthomatosis / β sitosterol / homozygosity mapping / 2P21 |
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| Research Abstract |
Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of β-sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within the distance of 18 centiMorgan, between microsatellite markers of D2S1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with sixteen microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 centiMorgan between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 centiMorgan.
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Report
(3 results)
Research Products
(3 results)
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[Publications] Togo M, Toda T, Anh NL, Kubota S, Tsukamoto K, Satoh H, Hara M, Iso-o N, Noto H, Kimura S, Nakahara K, Seyama Y, Hashimoto Y.: "Genetic Analysis of Phytosterolemia"J Inherit Metab Dis. 24. 43-50 (2001)
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「研究成果報告書概要(欧文)」より
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