【佳學基因檢測】通過多重連接依賴性探針擴增檢測 NF1 基因和外顯子的缺失

腫瘤基因檢測哪家醫(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增檢測 NF1 基因和外顯子的缺失》腫瘤靶向藥物治療基因檢測臨床研究文章。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。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調了基因信息檢測與分析的重要性。

癌癥個性化藥物選擇臨床研究內容關鍵詞：

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

腫瘤靶向治療基因檢測臨床應用結果

為了估計單個和多外顯子 NF1 基因拷貝數(shù)變化對 NF1 突變譜的貢獻，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 個先前已使用變性高效液相色譜或蛋白質截短試驗發(fā)現(xiàn)，對于基因內 NF1 點突變/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增 (MLPA) 進行分析，這允許檢測包含 > 或 = 1 個 NF1 外顯子的缺失或重復，以及整個基因缺失。 MLPA 結果使用實時定量 PCR (qPCR) 或熒光原位雜交進行驗證。 MLPA 篩選和實時 qPCR 共檢測到 23 個缺失。在這些缺失中，6 個是單外顯子，8 個是多外顯子，9 個是整個 NF1 基因。在我們的系列中，包含 > 或 = 1 個 NF1 外顯子的缺失約占 NF1 基因突變譜的 7% (14/201)，這表明現(xiàn)在應該系統(tǒng)地將這些篩查納入 NF1 患者的基因檢測中。

腫瘤發(fā)生與反復轉移國際數(shù)據(jù)庫描述：

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.