The IDH1 and IDH2 genes are located on chromosome 2q33.3 and 15q26.1, respectively. The two gene are key metabolic enzymes, converting isocitrate to α-ketoglutarate (αKG) in the tricarboxylic acid cycle (TCA cycle). Mutations in the IDH1 and IDH2 genes have been identified in subsets of patients across a number of solid and haematologic malignancies, like glioma and acute myeloid leukaemia (AML). Almost all IDH mutations are heterozygous somatic point mutations that cluster at the active sites of the IDH1 and IDH2 enzymes, leading to the subst itution of the aminoacids arginine 132 in IDH1 and arginine 172 in IDH2.
In gliomas, IDH mutations are primarily detected in WHO grade II-III tumors and represent a major biomarker with diagnostic, prognostic, and predictive implications. The recent development of IDH inhibitors suggests that the IDH mutation is also an appealing target for therapy. For example, AML patients with IDH1 mutations are benefit from IDH inhibitors.
UltraDx IDH1/IDH2 Gene Mutation Detection Kit is based on amplification-refractory mutation system (ARMS) technology and Taqman probe. ARMS is a reliable method for detecting any mutation involving single base changes or small deletions, which is based on the use of sequence-specific PCR primers that allow amplification of test DNA only when the target allele is contained within the sample and will not amplify the nontarget allele. The product of PCR is detected by fluorescent probes labeled with FAM.
UltraDx IDH1/IDH2 Gene Mutation Detection Kit contains internal control genes for measuring the quality of sample DNA, and Uracil-DNA Glycosylase (UDG ) for preventing PCR amplification carryover contamination.
Applicable sample type: FFPE tumor tissue
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Applied Biosystems™ Real time PCR system 7500, ABI QuantStudio™5 Real-time PCR system, LightCycler® 480 PCR system, Bio-Rad CFX96 real-time PCR instrument. Ultrassay eQ9600 Real Time qPCR System etc.
