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  • 基因表达PCR芯片
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  • > 产品目录 > 科研产品 > 体细胞突变PCR芯片 > KIT通路突变PCR芯片
    受体酪氨酸激酶Kit, 也被称为CD117或C-kit受体,在造血过程中发挥重要作用。Kit获得功能突变频发于多种恶性肿瘤,包括急性髓系白血病,胃肠道间质瘤及睾丸癌。KIT突变通常是成群出现的,包括缺失,点突变及重复突变。不同的突变类型对应不同的疾病以及对KIT抑制剂的敏感度,并为未来疾病治疗中酪氨酸激酶抑制剂的选择提供潜在指导意义。KIT通路激活介导的下游Ras-MAPK, PI3K 以及磷酸酶通路等也可能成为抑制剂的作用靶点。
    KIT通路突变PCR芯片
    受体酪氨酸激酶Kit, 也被称为CD117或C-kit受体,在造血过程中发挥重要作用。Kit获得功能突变频发于多种恶性肿瘤,包括急性髓系白血病,胃肠道间质瘤及睾丸癌。KIT突变通常是成群出现的,包括缺失,点突变及重复突变。不同的突变类型对应不同的疾病以及对KIT抑制剂的敏感度,并为未来疾病治疗中酪氨酸激酶抑制剂的选择提供潜在指导意义。KIT通路激活介导的下游Ras-MAPK, PI3K 以及磷酸酶通路等也可能成为抑制剂的作用靶点。
     
    人KIT通路体细胞突变PCR芯片适用于快速、准确地进行KIT基因及KIT通路相关基因:AKT, BRAF, KRAS, HRAS, NRAS, MEK1, PIK3CA和PTEN的突变研究。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。KIT通路体细胞突变PCR芯片覆盖广泛,适用于KIT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KIT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。该芯片操作简单,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
    KIT gene:
    27 mutation assays are included for KIT in this panel. These assays detect the most frequently identified KIT gain-offunction mutations, such as the D816V point mutation, the exon 11 (juxtamembrane domain) deletion and point mutations, an exon 9 insertion mutation, and exon 13 point mutations.
    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:
    12 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:
    10 NRAS mutation assays are included on the panel to cover codon positions 12, 13, and 61.
    MEK1 gene:
    4 assays for mutations with significance in cancer were included on this panel. These mutations cluster in MEK1 Nterminal 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 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
    可以检测低至0.1%的体细胞突变


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