【佳學(xué)基因檢測(cè)】通過多重連接依賴性探針擴(kuò)增檢測(cè) NF1 基因和外顯子的缺失

腫瘤基因檢測(cè)哪家醫(yī)院賊好解析

閱讀腫瘤的正確化治療及靶向藥物選擇發(fā)現(xiàn)《J Med Genet》在.?2007 Dec;44(12):800-8.發(fā)表了一篇題目為《通過多重連接依賴性探針擴(kuò)增檢測(cè) NF1 基因和外顯子的缺失》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由A De Luca?,?I Bottillo,?M C Dasdia,?A Morella,?V Lanari,?L Bernardini,?L Divona,?S Giustini,?L Sinibaldi,?A Novelli,?I Torrente,?A Schirinzi,?B Dallapiccola等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

癌癥個(gè)性化藥物選擇臨床研究?jī)?nèi)容關(guān)鍵詞：

外顯子,NF1,拷貝數(shù)變化,MLPA,基因檢測(cè)技術(shù),神經(jīng)纖維瘤

腫瘤靶向治療基因檢測(cè)臨床應(yīng)用結(jié)果

為了估計(jì)單個(gè)和多外顯子 NF1 基因拷貝數(shù)變化對(duì) NF1 突變譜的貢獻(xiàn)，我們分析了一系列 201 名意大利 1 型神經(jīng)纖維瘤病 (NF1) 患者。其中，138 個(gè)先前已使用變性高效液相色譜或蛋白質(zhì)截短試驗(yàn)發(fā)現(xiàn)，對(duì)于基因內(nèi) NF1 點(diǎn)突變/缺失/插入是雜合的，并被排除在該分析之外。其余 63 名患者使用多重連接依賴性探針擴(kuò)增 (MLPA) 進(jìn)行分析，這允許檢測(cè)包含 > 或 = 1 個(gè) NF1 外顯子的缺失或重復(fù)，以及整個(gè)基因缺失。 MLPA 結(jié)果使用實(shí)時(shí)定量 PCR (qPCR) 或熒光原位雜交進(jìn)行驗(yàn)證。 MLPA 篩選和實(shí)時(shí) qPCR 共檢測(cè)到 23 個(gè)缺失。在這些缺失中，6 個(gè)是單外顯子，8 個(gè)是多外顯子，9 個(gè)是整個(gè) NF1 基因。在我們的系列中，包含 > 或 = 1 個(gè) NF1 外顯子的缺失約占 NF1 基因突變譜的 7% (14/201)，這表明現(xiàn)在應(yīng)該系統(tǒng)地將這些篩查納入 NF1 患者的基因檢測(cè)中。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國(guó)際數(shù)據(jù)庫(kù)描述：

To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligation-dependent probe amplification (MLPA), which allows detection of deletions or duplications encompassing >or=1 NF1 exons, as well as entire gene deletions. MLPA results were validated using real-time quantitative PCR (qPCR) or fluorescent in situ hybridisation. MLPA screening followed by real-time qPCR detected a total of 23 deletions. Of these deletions, six were single exon, eight were multi-exon, and nine were of the entire NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene mutation spectrum, suggesting that screening for these should now be systematically included in genetic testing of patients with NF1.