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Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa
http://hdl.handle.net/10271/2768
http://hdl.handle.net/10271/2768d0e4b287-42ab-4307-9b23-3413b917461d
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
論文本文 (624.7 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2015-10-06 | |||||
| タイトル | ||||||
| タイトル | Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Retinitis pigmentosa | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | autosomal recessive | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | USH2A gene | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Japanese patient | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| その他のタイトル | ||||||
| その他のタイトル | 非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析 | |||||
| 言語 | ja | |||||
| 著者 |
Zhao, Yang
× Zhao, Yang |
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| 書誌情報 |
発行日 2013-09-20 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Objective: To identify disease-causing USH2A (Usher syndrome 2A) gene mutations in Japanese patients with non-syndromic retinitis pigmentosa (RP). Design: Case series. Participants: Hundred unrelated Japanese patients with no systemic manifestations of RP were identified, with the exclusion of families with obvious autosomal dominant inheritance. From these 100 patients, 18 RP patients with very likely pathogenic EYS (eyes shut homolog) gene mutations were excluded; finally, 82 patients were included in the study. The ophthalmological data of previously reported 13 unrelated Japanese patients with Usher syndrome (USH) by USH2A mutations were also collected. Methods: To determine the prevalence of USH2A gene mutations, all 72 exons were screened for mutations by polymerase chain reaction amplification. The phenotype analysis was based on ophthalmic examination and audiograms. Main Outcome Measures: DNA sequence variants, visual acuity, visual field assessments using Goldmann kinetic perimetry, optical coherence tomography images, and audiograms. Results: Mutation analysis of the USH2A gene revealed 5 very likely pathogenic mutations in 4 patients, 1 of whom did not have another possible pathogenic mutation. These very likely pathogenic mutations consisted of a deletion mutation, 2 splicing mutations, and 2 missense mutations. In addition, we also identified 3 possible pathogenic mutations in 3 individual patients. All the 4 patients with 1 or 2 very likely pathogenic mutations and 13 USH patients with USH2A mutations exhibited typical clinical features of RP, with the central visual acuity preserved relatively well up to their thirties. Conclusions: The spectrum of USH2A gene mutations among Japanese non-syndromic RP patients largely differs from that among European or North American population. Considering only 1 or 2 deleterious mutations, the observed prevalence of distinct USH2A gene mutations among Japanese arRP patients is 4% (4/100). |
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| 言語 | en | |||||
| 学位名 | ||||||
| 言語 | ja | |||||
| 学位名 | 博士（医学） | |||||
| 学位の区分 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | doctoral | |||||
| 言語 | en | |||||
| 学位の分野 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 医学系研究科 | |||||
| 言語 | ja | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 13802 | |||||
| 言語 | ja | |||||
| 学位授与機関名 | 浜松医科大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2013-09-20 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲第660号 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
