| Project/Area Number |
23791975
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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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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| Research Collaborator |
HOTTA Yoshihiro 浜松医科大学, 医学部, 教授 (90173608)
TAKAHASHI Masayo 浜松医科大学, 医学部, 教授 (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)
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| Project Period (FY) |
2011 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 網膜色素変性 / 遺伝学 / 遺伝子変異 / 常染色体劣性遺伝 / 遺伝子変異解析 / 遺伝子診断 / EYS |
|---|
| 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 18 patients, second mutant allele could not be detected in 9 patients. Among these 7 mutations, 2 truncating mutations, c.4957_4958insA and c.8868C>A, weredetected in at least one mutated allele in 16% of Japanese arRP patients and may be the most frequent mutations causing RP in the Japanese populations.
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