【佳学基因检测】通过多重连接依赖性探针扩增检测 NF1 基因和外显子的缺失

肿瘤基因检测哪家医院最好解析

阅读肿瘤的精准化治疗及靶向药物选择发现《J Med Genet》在. 2007 Dec;44(12):800-8.发表了一篇题目为《通过多重连接依赖性探针扩增检测 NF1 基因和外显子的缺失》肿瘤靶向药物治疗基因检测临床研究文章。该研究由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。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

癌症个性化药物选择临床研究内容关键词：

外显子,NF1,拷贝数变化,MLPA,基因检测技术,神经纤维瘤

肿瘤靶向治疗基因检测临床应用结果

为了估计单个和多外显子 NF1 基因拷贝数变化对 NF1 突变谱的贡献，我们分析了一系列 201 名意大利 1 型神经纤维瘤病 (NF1) 患者。其中，138 个先前已使用变性高效液相色谱或蛋白质截短试验发现，对于基因内 NF1 点突变/缺失/插入是杂合的，并被排除在该分析之外。其余 63 名患者使用多重连接依赖性探针扩增 (MLPA) 进行分析，这允许检测包含 > 或 = 1 个 NF1 外显子的缺失或重复，以及整个基因缺失。 MLPA 结果使用实时定量 PCR (qPCR) 或荧光原位杂交进行验证。 MLPA 筛选和实时 qPCR 共检测到 23 个缺失。在这些缺失中，6 个是单外显子，8 个是多外显子，9 个是整个 NF1 基因。在我们的系列中，包含 > 或 = 1 个 NF1 外显子的缺失约占 NF1 基因突变谱的 7% (14/201)，这表明现在应该系统地将这些筛查纳入 NF1 患者的基因检测中。

肿瘤发生与复发转移国际数据库描述：

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.