1994 Fiscal Year Final Research Report Summary
SEARCH FOR GENETIC ABNORMALITIES OF X-LINKED NEUROLOGICAL DISEASE
| Project/Area Number |
05670554
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Niigata University |
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Principal Investigator |
KOIKE Ryoko Niigata University Hospital, 医学部・付属病院・神経内科, 助手 (60234671)
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| Co-Investigator(Kenkyū-buntansha) |
TSUJI Shoji Brain Research Institute, Niigata University, Professor, 脳研究所・神経内科, 教授 (70150612)
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| Project Period (FY) |
1993 – 1994
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| Keywords | Adrenoleukodystrophy / X-chromosome / ALDP gene / Mutational analysis |
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| Research Abstract |
The purpose of this research project was to identify the causative gene for X-linked neurological disease, and analyze the mutation of the gene.
We mainly studied the mutational analysis of putative adrenoleukodystrophy gene (ALDP) in many Japanese ALD patients. We detected partial non-overlapping deletions of the ALDP gene in 7% of ALD patients and confirmed that the gone is the causative gone for ALD.We analyzed the entire coding region of ALDP gene in 5 ALD patients by direct sequencing method, and found 4 novel point mutations of the gene, and we have been establishing the screening system of the mutation of ALDP gene.
We also identified 353 Not1-linking cosmid clones and 62 DNA markers from human chromosome Xq24*qter. This cosmid clones are useful for the Identification of functional genes of this region.
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