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急性骨髄性白血病におけるNPM、FLT3、CEBPA遺伝子変異の同時検出の試み
http://hdl.handle.net/2297/28563
http://hdl.handle.net/2297/285633ae27c8f-dcec-48a3-9037-9f36b6945c31
名前 / ファイル | ライセンス | アクション |
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AA11599711-35-1-53-60.pdf (997.5 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2017-10-04 | |||||
タイトル | ||||||
タイトル | 急性骨髄性白血病におけるNPM、FLT3、CEBPA遺伝子変異の同時検出の試み | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Attempt of simultaneous detection of NPM, FLT3 and CEBPA gene mutations | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | acute myeloid leukemia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | nucleophosmin | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | fms-like tyrosine kinase receptor-3 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CCAAT/enhancer-binding protein-α | |||||
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 | departmental bulletin paper | |||||
著者 |
藤嶋, ゆみえ
× 藤嶋, ゆみえ× 大竹, 茂樹× 竹本, 賢一 |
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書誌情報 |
金沢大学つるま保健学会誌 = Journal of the Tsuruma Health Science Society Kanazawa University 巻 35, 号 1, p. 53-60, 発行日 2011-07-31 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1346-8502 | |||||
NCID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11599711 | |||||
出版者 | ||||||
出版者 | 金沢大学つるま保健学会 = the Tsuruma Health Science Society, Kanazawa University | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 近年、これまで予後中間群とされてきた正常核型の急性骨髄性白血病(AML)が、いく つかの遺伝子変異の有無により予後の予測ができることが明らかになってきた。この遺伝 子変異の中でもnucleophosmin(NPM)、fms-like tyrosine kinase receptor-3(FLT3)、 CCAAT/enhancer-binding protein- (CEBPA)遺伝子変異が重要視されている。本研 究ではサンプルとして骨髄および末梢血分離細胞から抽出、調整したcDNAとgenomic DNAのみならず、これらの塗抹保存標本から抽出したgenomic DNAを用い、PCR-Gene Scan法によってNPM、FLT3およびCEBPA遺伝子変異の同時検出法の実用化を試みた。 プライマーを異なる蛍光色素で標識し、また異なる大きさのPCR産物ができるように設計 すると、多種類の遺伝子変異を同時に検出することが確認できた。しかしながら、その感 度は白血病細胞が10%程度以上存在することが必要であった。この検査法を用いれば、簡 便かつ迅速に白血病の遺伝子検査を実施することができるので、臨床検査法として病院検 査部の業務として採用できるようにさらに精度の検討を行っていくことが必要と考えられ た。【Aim】Nucleophosmin (NPM), internal tandem duplications in the fms-related tyrosine kinase 3 (FLT3-ITD) and CCAAT/enhancer-binding protein- (CEBPA) gene mutations have recently attracted considerable attention in acute myeloid leukemia (AML) with normal karyotype. We investigated the method that can easily and simultaneously detect these aberrations. 【Method】Genomic DNA specimens were collected from not only fresh bone marrow or peripheral blood cells but also smears of these samples. We also extracted and synthesized cDNA from these fresh cells. In all samples, presence of NPM, FLT3 and CEBPA gene mutations were examined by multiplex PCR assay using several colored fluorescence labeled primers, followed by capillary electrophoresis using ABI Prism 310 Genetic Analyzer. In order to easily discriminate gene mutations, we used primers that could amplify PCR products of different size. Abnormal profiles of NPM were confirmed by direct sequencing. 【Result】Ten (20%) NPM and 7 (14%) FLT3-ITD mutations were detected in 49 AML patients. One (2.0%) TAD 1, 15 (30.6%) TAD 2 and none bZIP mutations of CEBPA could be detected in these patients. In analysis of sensitivity, leukemic cells had to be present more than 10% in original sample. This PCR-Gene Scan method is easily and rapidly performed. We suggest that these assays may be introduced in routine analysis of genetic alterations in AML in hospital laboratory after closer examination of accuracy. More samples from uniformly treated patients should be collected to analyze the relationship between these aberrations and the prognosis of them. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | [原著:Originals] | |||||
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 |