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国立療養所南九州病院における進行性筋ジストロフィー患児の遺伝子解析と保因者診断を施行した2家系
https://doi.org/10.11501/3164968
https://doi.org/10.11501/3164968a80f0af1-3fbd-4f76-a06a-8c3ad1ed853f
名前 / ファイル | ライセンス | アクション |
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000000350161.pdf (5.2 MB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2015-03-16 | |||||
タイトル | ||||||
タイトル言語 | ja | |||||
タイトル | 国立療養所南九州病院における進行性筋ジストロフィー患児の遺伝子解析と保因者診断を施行した2家系 | |||||
タイトル | ||||||
タイトル言語 | en | |||||
タイトル | A study of dystrophin gene analysis for the patients with progressive muscular dystrophy in Minamikyusyuu National Hospital and a carrier status diagnosis in two families | |||||
タイトル | ||||||
タイトル言語 | ja-Kana | |||||
タイトル | コクリツ リョウヨウジョ ミナミキュウシュウ ビョウイン ニオケル シンコウセイ キンジストロフィー カンジ ノ イデンシ カイセキ ト ホインシャ シンダン オ シコウ シタ 2カケイ | |||||
著者 |
田中, 主美
× 田中, 主美 |
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言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | progressive muscular dystrophy | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | multiplex PCR | |||||
キーワード | ||||||
主題言語 | en | |||||
主題Scheme | Other | |||||
主題 | carrier status diagnosis | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_46ec | |||||
資源タイプ | thesis | |||||
ID登録 | ||||||
ID登録 | 10.11501/3164968 | |||||
ID登録タイプ | JaLC | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Progressive muscular dystrophy is a X-linked recessive disease and the clinical course is very severe. Therefore,dystrophin gene analysis and carrier status diagnosis are important. The method of multiplex PCR was introduced in this study. Eighteen subjects showed dystrophin gene deletion out of 28 subjects who were administered in Minamikyushuu National Hospital. The regions of deletion tended to gather around exon 43-52,and 72.2% of deletion was detected in these area. Gene analysis of 10 subjects who didn't show dystrophin gene deletion were not examined about point mutation. The carrier status diagnosis was detected by the methods of PCR-RFLP (restriction fragment length polymorphism) and PCR-VNTR (variable number of tandem repeat) for 2 families. The targeted 2 subjects did not show carrier status,but this result was not perfect because of high possibility of genomic translocation which originated from giant size of dystrophin gene. For this reason,we carried out 5 analysis for more correct diagnosis,and the procedurs were simple. This carrier status diagnosis was the first report in Kagoshima prefecture. | |||||
内容記述言語 | en | |||||
要約(Abstract) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 医歯学総合研究科博士論文(医学) ; 学位取得日: 平成12年2月18日 | |||||
内容記述言語 | ja | |||||
収録雑誌名 |
ja : 鹿児島大学医学雑誌 en : Medical journal of Kagoshima University 巻 51, 号 2-3, p. 27-31, 発行日 2000 |
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作成日 | ||||||
日付 | 2000-02-18 | |||||
日付タイプ | Issued | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0368-5063 | |||||
NII書誌ID(雑誌) | ||||||
収録物識別子タイプ | NCID | |||||
NC ID | AN00040104 | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
NDC | ||||||
主題Scheme | NDC | |||||
主題 | 493 | |||||
公開者・出版者 | ||||||
出版者言語 | ja | |||||
出版者 | 鹿児島大学 | |||||
公開者・出版者 | ||||||
出版者言語 | ja-Kana | |||||
出版者 | カゴシマ ダイガク | |||||
公開者・出版者 | ||||||
出版者言語 | en | |||||
出版者 | Kagoshima University | |||||
関連(relation)(relationType設定なし) | ||||||
識別子タイプ | URI | |||||
関連識別子 | http://id.ndl.go.jp/bib/000000350161 | |||||
関連(isVersionOf) | ||||||
識別子タイプ | URI | |||||
関連識別子 | http://dl.ndl.go.jp/info:ndljp/pid/3164968 | |||||
備考 | ||||||
備考 | 平成22年度に行われた国立国会図書館の学位論文(博士)デジタル化事業に際し、著者から、学位授与大学において、国立国会図書館から譲渡を受けた学位論文のデジタル化複製物を利用(全文複写提供、公衆送信)に供することの許諾を受けたものです(参考:http://www.ndl.go.jp/jp/aboutus/digitization_theses.html)。 | |||||
学位記番号 | ||||||
医論第1264号 | ||||||
学位授与年月日 | ||||||
学位授与年月日 | 2000-02-18 |