1996 Fiscal Year Final Research Report Summary
Molecular biology of neurological diseases with abnormality of central or peripheral nerve myelin
| Project/Area Number |
07670720
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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 |
Neurology
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| Research Institution | Kagoshima University |
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Principal Investigator |
NAKAGAWA Masanori University Hospital Kagoshima University Assistant Professor, 医学部・附属病院, 講師 (50198040)
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| Co-Investigator(Kenkyū-buntansha) |
UMEHARA Fujio University Hospital Kagoshima University Research Associate, 医学部・附属病院, 助手 (20271140)
ARIMURA Kimiyoshi Faculty of Medicine Kagoshima University Associate Professor, 医学部, 助教授 (20159510)
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| Project Period (FY) |
1995 – 1996
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| Keywords | Motor sensory neuropathy / Myelin / Hereditary / Linkage analysis / PLP / P_0 / PMP22 / Chromosome 3 |
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| Research Abstract |
Purpose :
1. Gene mapping of neurological diseases with abnormality of central or peripheral nerve myelination using microsatellite polymorphic DNA markers.
2. DNA sequencing of the families with neurological diseases linked to PLP, P0 or PMP22 gene locus.
3. Linkage analysis of the families with no linkage to the known gene locus using 280 (CA) repeat microsatellite markers.
4. Cloning of the genes mapped by the linkage analysis.
Results :
1. The gene responsible for a new type of motor and sensory neuropathy was mapped to chromosome 3 centromere region.
2. In this region ; the patients'chromosomes showed an obvious increase in the allele frequency of five markers. One allele in D3S1591 was identical in all patients but had a low frequency in the control population. This finding suggested the presence of linkage disequilbrium and a common origin of this allele in all patients.
3. Other familial disorders linked to P0 or PMP22 gene locus were analyzed by PCR-SSCP and DNA sequencing Linkage analysis of familial disorders with central or peripheral nerve abnormalities, which were not linked to PLP,P_0 and PMP22 gene loci, has been started. Conclusions : We identified a new type of hereditary motor and sensory neuropathy in this research project. Gene cloning responsible for this new disease is the important next research project.
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