2014 Fiscal Year Final Research Report
The development and clinical application of EYS gene mutation diagnosis in Japanese Retinitis pigmentosa patients
| Project/Area Number |
25861626
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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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| Co-Investigator(Renkei-kenkyūsha) |
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)
AZUMA Noriyuki 独立行政法人国立成育医療研究センター, 感覚器・形態外科部, 医長 (10159395)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Keywords | 網膜色素変性 / EYS遺伝子 |
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| Outline of Final Research Achievements |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease with autosomal recessive (ar), autosomal dominant, or X-linked inheritance. We analyzed mutations of EYS and USH2A in Japanese arRP cases (total 100). The analysis of EYS for 100 RP patients elucidated 7 probable pathogenic mutations from 18 cases.
Our recent analysis of the EYS using MLPA method to assay the copy number of each exon elucidated a case with an exon deletion and another case with an exon duplication from 9 patients in which only one probable causative mutation had been detected. It is quite possible that more of copy number mutations latently exist in EYS and others of RP patients.
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| Free Research Field |
分子生物学、遺伝学
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