| Project/Area Number |
09470188
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
TOMITA Yasushi Nagoya University, School of Medicine, Professor, 医学部, 教授 (70108512)
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| Co-Investigator(Kenkyū-buntansha) |
MORI Hijiri School of Medicine, Assistant Professor, 医学部, 講師 (60260593)
MIYAMURA Yoshinori School of Medicine, Research Associate, 医学部, 助手 (50272034)
小野 博紀 名古屋大学, 医学部, 助手 (50224275)
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| Project Period (FY) |
1997 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥13,700,000 (Direct Cost: ¥13,700,000)
Fiscal Year 1999: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1998: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1997: ¥11,700,000 (Direct Cost: ¥11,700,000)
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| Keywords | dyschromatosis symmetrica hereditaria / linkage analysis / autosomal dominant inheritance / Idiopathic torsion dystonia / 優性遺伝 |
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| Research Abstract |
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary disorder, first reported by Toyama, Japanese Dermatologist in 1910. It is characterized by a mixture of hypopigmented and hyperpigmented macules of various sizes on the backs of the hands and feet. The disease gene of DSH and its chromosomal localization have not yet been identified. We therefore tried to determine the locus of the disease gene.
We performed linkage analysis between DSH and microsatellite markers in three Japanese DSH families (36 patients in total). More than 200 microsatellite markers from Linkage Mapping Set (Perkin-Elmer, Foster City, CA) were used for linkage analysis. DNA fragment length analysis was carried out using personal computer, Macintosh Centris 650 with 672 Genescan software and Genotyper Ver. 1.1. The allele size of each marker was rounded using the GAS package Ver. 2.0. Calculations for linkage analysis were performed with the FASTLINK software package Ver. 4.0.
The result of two-point and five-point analyses showed the regions with a LOD score of <3. We now try to specify the region.
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