| Project/Area Number |
22591270
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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 |
Psychiatric science
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| Research Institution | Institute for Developmental Research, Aichi Human Service Center |
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Principal Investigator |
YAMADA Yasukazu 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 室長 (70191343)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 臨床精神分子遺伝学 / 良性けいれん / ナトリウムチャネル / 遺伝子変異 / 連鎖 / 遺伝子診断 |
|---|
| Research Abstract |
Linkage analysis of the large BFNC family pathogenesis narrowed down the gene locus to the region between D2S335 and D2S142 (lodscore 2.1 maximum). Some sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A) were located in this chromosome 2q23-24 domain. As analyzing those genes, we identified a single nucleotide substitution (IVS18+7A>G) in a new candidate gene, SCN7A. However, it was not proved that the substitution IVS18+7A>G caused splice error responsible for BFNC. Therefore, we performed array CGH analysis considering the possibility of gene deletion, but chromosome abnormalities causing BFNC have not been identified. Furthermore, the exome analyses of the affected and non-affected individuals in the family were not given any other information about mutations causing BNFC.
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