| Project/Area Number |
25461557
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Ibaraki Prefectural University of Health Science |
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Principal Investigator |
Nakayama Junko 茨城県立医療大学, 公私立大学の部局等, 准教授 (30433155)
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| Co-Investigator(Kenkyū-buntansha) |
有波 忠雄 筑波大学, 医学医療系, 教授 (10212648)
岩崎 信明 茨城県立医療大学, 保健医療学部, 教授 (70251006)
野口 恵美子 筑波大学, 医学医療系, 教授 (40344882)
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 熱性けいれん / 遺伝子 / 日本人 / 遺伝子変異 / 遺伝子多型 / シークエンス / MLPA / MLPA法 / ダイレクトシークエンス法 |
|---|
| Outline of Final Research Achievements |
Microdeletions within chromosomal bands 5q14.3q15 were recently identified to underlie several neurological features including epilepsy. The GPR98 gene and the MEF2C gene are considered phenotypic candidate genes for this syndrome. This chromosomal region overlaps with FEB4 locus which we have previously reported. To investigate whether GPR98 and MEF2C are susceptibility genes for febrile seizures (FS), we performed a systematic search for mutations in 48 patients with familial FS. We detected 31 variants by direct sequencing and a duplicated region by multiplex ligation-dependent probe amplification. Although most of them were registered SNPs and copy number variants, one unregistered missense mutation was detected in GPR98. The association studies using detected SNPs did not find significant associations with FS. Our results indicate that genomic variations in GPR98 and MEF2C are not likely to be substantially involved in the etiology of FS in a Japanese population.
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