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  • > 产品目录 > 科研产品 > 体细胞突变PCR芯片 > PDGFR通路体细胞突变PCR芯片
            血小板衍生生长因子PDGFs及其受体PDGFRs为生长因子和酪氨酸激酶受体成员,在肿瘤等疾病的发生中具有重要意义。自分泌活化的PDGFR通路已在神经胶质瘤、肉瘤及白血病中发现,同时,经旁分泌活化的PDGFR通路也在上皮性肿瘤中发现。异常活化的PDGFR通路可激活上皮-间质转换,促进肿瘤的增殖,血管生成,侵袭及转移。胃肠道中最常见的一种间质瘤,胃肠道间质瘤(GIST)的发生就与PDGFR-A基因突变密切相关。目前,PDGFR-A的基因突变已被作为治疗的药物靶点,然而,PDGFR下游通路,MAPK, PI3K及磷脂酶通路在肿瘤治疗中的作用尚不清楚,有待于进一步研究。

    血小板衍生生长因子PDGFs及其受体PDGFRs为生长因子和酪氨酸激酶受体成员,在肿瘤等疾病的发生中具有重要意义。自分泌活化的PDGFR通路已在神经胶质瘤、肉瘤及白血病中发现,同时,经旁分泌活化的PDGFR通路也在上皮性肿瘤中发现。异常活化的PDGFR通路可激活上皮-间质转换,促进肿瘤的增殖,血管生成,侵袭及转移。胃肠道中最常见的一种间质瘤,胃肠道间质瘤(GIST)的发生就与PDGFR-A基因突变密切相关。目前,PDGFR-A的基因突变已被作为治疗的药物靶点,然而,PDGFR下游通路,MAPK, PI3K及磷脂酶通路在肿瘤治疗中的作用尚不清楚,有待于进一步研究。
     
    人PDGFR通路体细胞突变PCR芯片可适用于快速、准确的检测PDGFR-A基因及PDGFR通路下游常见基因突变的检测,如AKT, BRAF, KRAS, HRAS, NRAS, MEK1, PIK3CA和PTEN。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。PDGF通路体细胞突变PCR芯片覆盖广泛,适用于PDGF及其下游通路的突变检测,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PDGF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。
     
    体细胞突变PCR芯片仅适用于分子生物学研究,不适用疾病的临床诊断及治疗。

    Assay functional annotations
    PDGFR-A gene:
    22 mutation assays are included for PDGFR-A in this panel. These assays detect the most frequently identified PDGFR-A gain-of-function mutations, including deletion, point mutation, and deletion-insertion mutations in regions p.D842_S847, and p.R554_E571, and the point mutations p.N659Y and p.T674I.
    AKT gene:
    The mutation assay detects 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 membrane.
    BRAF gene:
    Two classes of mutation assays are included. One class covers mutations that lead to increased BRAF kinase activity, such as the 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.
    KRAS gene:
    15 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 to become unresponsive to RasGAP.
    HRAS gene:
    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.
    NRAS gene:
    12 NRAS mutation assays are included on the panel to cover codon positions 12, 13, and 61, as well as mutation p.A18T.
    MEK1 gene:
    4 assays for mutations with verified clinical significance in cancer were included on this panel. These mutations cluster in MEK1 N-terminal negative regulatory domain and an adjacent domain, and are all activating mutations (i.e. lead to up-regulated intrinsic MEK1 kinase activity).
    PIK3CA (phosphatidylinositol 3-kinase catalytic subunit) gene:
    The mutation assays covered on this panel can detect 7 of the 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.
    PTEN gene:
    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).

    规格:85个位点/array   1sample/array
    检测灵敏度:可以检测低至0.1%的体细胞突变



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