| Project/Area Number |
23592561
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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 |
Ophthalmology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
TAKAHASHI Masayo 独立行政法人理化学研究所, 発生・再生科学総合研究センター網膜再生医療研究チーム, チームリーダー (80252443)
KONDO Mineo 三重大学, 医学部, 教授 (80303642)
YAMAMOTO Shuichi 千葉大学, 医学部, 教授 (20230550)
MINOSHIMA Shinsei 浜松医科大学, メディカルフォトニクス研究センター, 教授 (90181966)
中西 啓 浜松医科大学, 医学部附属病院, その他 (20444359)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 網膜色素変性 / 遺伝子診断 / 常染色体劣性 / 変異解析 / EYS / USH2A / 遺伝子変異解析 / 遺伝学 / 遺伝子変異 / 常染色体劣性遺伝 / RPE65 |
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| Research Abstract |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients. We detected 7 very likely pathogenic mutations in 18 patients. Of these 100 patients, 82 were included in the next study after 18 RP patients with very likely pathogenic EYS mutations were excluded. The mutation analysis of the USH2A revealed 5 very likely pathogenic mutations in 4 patients. Based on these data, if both EYS and USH2A genes are analyzed among Japanese arRP patients, gene defects could be detected in 22% of the patients in total (18% and 4%, respectively). We believe that screening for these 2 genes is effective for genetic testing and counseling of RP patients in Japan.
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