| Project/Area Number |
05454261
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Jichi Medical School |
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Principal Investigator |
NISHIZAWA Masatoyo Jichi Medical School, 医学部, 助教授 (80198457)
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| Co-Investigator(Kenkyū-buntansha) |
KAWASHIMA Shingo Jichi Medical School, 医学部, 助手 (30254915)
滝山 嘉久 自治医科大学, 医学部, 助手 (00245052)
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| Project Period (FY) |
1993 – 1994
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| Project Status |
Completed (Fiscal Year 1994)
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| Budget Amount *help |
¥7,000,000 (Direct Cost: ¥7,000,000)
Fiscal Year 1994: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1993: ¥5,700,000 (Direct Cost: ¥5,700,000)
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| Keywords | Machado-Joseph disease / chromosome 14 / molecular genetics / triplet repeat / anticipation / gene analysis / Machado-Joseph病 / triplet repeat / 脊髄小脳変性症 / 連鎖解析 / 遺伝子座 |
|---|
| Research Abstract |
Machado-Joseph disease (MJD) is one of the most common forms of spinocerebellar degeneration with autosomal dominant inheritance in Japan. We mapped the gene locus for MJD to the long arm of chromosome 14q (14q24.3-32.1) by systematic genetic linkage analysis using highly polymorphic microsatellite DNA markers. MJD found in Portuguese-Azorean descent was also tightly linked to the same DNA markers.
The gene for MJD,MJD1, was identified from cDNA libraries as the one expressed in the CNS and showing abnormal expansion of CAG repeat by researchers in Kyoto University. We confirmed thier result and showed that the number of CAG repeat in MJD1 gene is associated with genetic anticipation, paternal bias, and the clinical phenotypes of Japanese MJD.
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