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Simultaneous screening for JAK2 and calreticulin gene mutations in myeloproliferative neoplasms with high resolution melting
http://hdl.handle.net/10069/37293
http://hdl.handle.net/10069/3729362922ac6-0d09-4598-b693-b73fe27ce0e0
名前 / ファイル | ライセンス | アクション |
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CCA462_166.pdf (1.3 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-05-16 | |||||
タイトル | ||||||
タイトル | Simultaneous screening for JAK2 and calreticulin gene mutations in myeloproliferative neoplasms with high resolution melting | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Calreticulin | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | High resolution melting | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Janus kinase 2 V617F | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Myeloproliferative neoplasms | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Screening test | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Matsumoto, Nariyoshi
× Matsumoto, Nariyoshi× Mori, Sayaka× Hasegawa, Hiroo× Sasaki, Daisuke× Mori, Hayato× Tsuruda, Kazuto× Imanishi, Daisuke× Imaizumi, Yoshitaka× Hata, Tomoko× Kaku, Norihito× Kosai, Kousuke× Uno, Naoki× Miyazaki, Yasushi× Yanagihara, Katsunori |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Introduction Recently, novel calreticulin (CALR) mutations were discovered in Janus kinase 2 (JAK2) non-mutated myelofibrosis (PMF) and essential thrombocythemia (ET) cases, with a frequency of 60?80%. We examined clinical correlations and CALR mutation frequency in our myeloproliferative neoplasms (MPN) cases, and introduce an effective test method for use in clinical practice. Methods We examined 177 samples previously investigated for the JAK2 mutation for differential diagnosis of MPN. JAK2 and CALR mutations were analyzed using melting curve analysis and microchip electrophoresis, respectively. Next, we constructed a test for simultaneous screening of the JAK2 and CALR mutations utilizing high resolution melting (HRM). Results Among 99 MPN cases, 60 possessed the JAK2 mutation alone. Of the 39 MPN cases without the JAK2 mutation, 14 were positive for the CALR mutation, all of which were ET. Using our novel screening test for the JAK2 and CALR mutations by HRM, the concordance rate of conventional analysis with HRM was 96% for the JAK2 mutation and 95% for the CALR mutation. Conclusion Our novel simultaneous screening test for the JAK2 and CALR gene mutations with HRM is useful for diagnosis of MPN. | |||||
書誌情報 |
Clinica Chimica Acta 巻 462, p. 166-173, 発行日 2016-11-01 |
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出版者 | ||||||
出版者 | Elsevier B.V. | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00098981 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.cca.2016.09.023 | |||||
権利 | ||||||
権利情報 | c 2016 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Clinica Chimica Acta, 462, pp.166-173; 2016 |