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骨髄増殖症候群におけるN-ras,p53遺伝子の変異の検討
https://dmu.repo.nii.ac.jp/records/128
https://dmu.repo.nii.ac.jp/records/1282008cb94-3154-4cd0-92f7-e75764620df2
名前 / ファイル | ライセンス | アクション |
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Item type | [ELS]学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-05-24 | |||||
タイトル | ||||||
タイトル | 骨髄増殖症候群におけるN-ras,p53遺伝子の変異の検討 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Examination of the Variation of N-ras in a Marrow Multiplication Syndrome, and p53 Gene | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題 | 骨髄増殖症候群 | |||||
キーワード | ||||||
主題 | N-ras | |||||
キーワード | ||||||
主題 | p53 | |||||
キーワード | ||||||
主題 | 遺伝子変異 | |||||
キーワード | ||||||
言語 | en | |||||
主題 | myeloproliferative disorder | |||||
キーワード | ||||||
言語 | en | |||||
主題 | N-ras | |||||
キーワード | ||||||
言語 | en | |||||
主題 | p 53 | |||||
キーワード | ||||||
言語 | en | |||||
主題 | gene mutation | |||||
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 | |||||
雑誌書誌ID | ||||||
収録物識別子 | AA00629581 | |||||
論文名よみ | ||||||
タイトル | コツズイ ゾウショク ショウコウグン ニオケル N-ras,p53 イデンシ ノ ヘンイ ノ ケントウ | |||||
著者 |
鶴見, 茂治
× 鶴見, 茂治× Tsurumi, Shigeharu |
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著者所属(日) | ||||||
獨協医科大学内科学(血液) | ||||||
著者所属(英) | ||||||
en | ||||||
Department of Hematology, Dokkyo University School of Medicine | ||||||
記事種別(英) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Thesis | |||||
抄録(日) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 骨髄増殖症候群(myeloproliferative disorder : MPD)には真性赤血球増加症(polycythemia vera: PV),本態性血小板血症(essential thrombocythemia : ET) ,原発性骨髄線維症(idiopathic myelofibro-sis : MF)が含まれ,骨髄系細胞の慢性的な増殖を主徴とするが,その発症や病期進展に関与する分子病態については未だ不明の点が多い.我々は,本邦のMPD64症例(PV15例,ET38例,MF11例;慢性期例計58例,白血病化例計6例)につき,造血器腫瘍で多く変異がみられるN-rasおよびp53遺伝子の変異についての解析を行った。患者骨髄から得られたゲノムDNAからN-rasのエクソン1,2およびp53のエクソン5-9をPCRにて増幅しシークエンスを行ったところ,N-ras遺伝子の変異はいずれの症例においてもみられなかったが,2例において計3つのp53遺伝子の変異が認められた。これらのうち1例はPVから慢性好中球性自血病に移行した症例であり,p53遺伝子のエクソン5内での点突然変異が認められた。他の1例はETから急性骨髄性白血病に移行した症例であり,p53遺伝子のエクソン7内の点突然変異とエクソン5内の18bpの欠失がみられ,これらの2つの変異は別々のアレルで生じていることが示された.以上の結果より,MPDにおいてN-rasおよびp53遺伝子の変異の頻度は低いが,後者は病期の一進展に関与している可能性が示唆された。 | |||||
抄録(英) | ||||||
内容記述タイプ | Other | |||||
内容記述 | We investigated the involvement of the N-ras oncogene and the p 53 tumor suppressor gene in samples from 64 patients with myeloproliferative disorders (MPD), including poiycythemia vera (PY), essential thrombocythemia (ET) and idiopathic myelofibrosis (ME). The mutations in N-ras exons 1 and 2 (containing codons 12, 13 and 61) and p 53 exons 5-9 were tested by polymerase chain reaction (PCR)-direct sequencing. No mutations in the N-ras gene were detected in any cases. Alteration of the p 53 gene was found in two patients, one with chronic neutrophilic leukemia derived from PV and one with acute myelogenous leukemia derived from FT. The former case exhibited a missense mutation within exon 5. The latter presented a small deletion within exon 5 and a missense mutation within exon 7 occurring independently on both alleles. These results suggest that the involvement of both genes are rare in chronic phase MPD and inactivation of the p 53 gene might play a role in progression of the disease. | |||||
書誌情報 |
Dokkyo journal of medical sciences 巻 30, 号 1, p. 119-124, 発行日 2003-03-25 |
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ISSN | ||||||
収録物識別子 | 03855023 |