人FLT3通路体细胞突变PCR芯片适用于快速、准确检测FLT3基因及其下游基因的突变。利用单个或多个体细胞突变信息检测关键信号通路异常已被广泛应用于临床研究。例如: EGFR和KRAS基因突变能够预测靶向该位点的药物治疗响应。FLT3通路体细胞突变PCR芯片覆盖广泛，适用于FLT3通路突变检测，并有望为临床相关疾病提供潜在药物治疗靶点。该芯片包含FLT3通路中85个最常见并具有重要功能和生理学意义的突变位点。突变位点主要由多种体细胞突变数据库以及经同行评阅的科学文献筛选得到。芯片操作简单，只需借助real-time PCR仪即可完成，应用广泛。
Assay functional annotations
19 mutation assays are included in this panel to cover the most frequently identified FLT3 mutations. These include point mutations, insertion and deletion mutations in the juxtamembrane region of the coding sequence and in the activation loop portion of the sequence. An extracellular domain mutation p.S451F and an N-terminal kinase domain mutation A680V were also covered.
The panel includes an assay for the best known AKT1 mutation, c.49G>A, p.E17K. This is a PH domain mutation that results in constitutive targeting of AKT1 to plasma emebrane.
Two classes of mutation assays are included. One class covers mutations that lead to increased BRAF kinase activity, such as the p.L597 and p.V600 mutations. The other class detects mutations that lead to impaired kinase activity, such as the p.G464V, p.G466V and p.G469A mutations.
16 KRAS mutation assays provide comprehensive analysis capacity for the most frequently occurring mutations in KRAS codon positions 12,13 and 61. Mutations at these positions result in reduced intrinsic GTPase activity and/or cause KRAS unresponsive to RasGAP. The p.L19F mutation assay is also included.
Similar to KRAS mutation assays, the >10 HRAS mutation assays on this panel aim to cover the most important HRAS mutations identified in cancers at codon 12, 13 and 61 positions.
12 NRAS mutation assays were included on the panel to cover codon positions 12, 13 and 61, as well as mutation p.A18T.
4 assays for mutations with verified clinical significance in cancer were included on the panel. These mutations cluster in MEK1 N-terminal negative regulatory domain and an adjacent domain, and are all activating mutations (i.e. lead to upregulated intrinsic MEK1 kinase activity).
PIK3CA (phosphatidylinositol 3-kinase catalytic subunit) gene:
The mutation assays covered on this panel can detect 7 most frequently occurring PIK3CA mutations that belong to two classes: p.H1047 mutations, which are activating, kinase domain mutations; and mutations in P539-E545 region, which are helical domain mutations that mimic activation by growth factors.
Included on the panel are 6 most commonly detected PTEN loss-of-function mutations that are due to either truncation (p.R233* and p.R130*) or point mutation-caused phosphatase inactivation (p.R130 and p.R173 mutations).