Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Busulphan [1,4-bis(methanesulfonoxy)butane], an alkylating agent used in the treatment of chronic myelocytic leukemia, was labeled with the positron-emitting radionuclide carbon-11 in a four-step synthetic procedure [1-11C]4-Hydroxybutyronitrile was obtained in 60-70% yield by the reaction of [11C]cyanide with 3-bromopropanol. The nitrile was hydrolysed to [1-11C]gamma-butyrolactone (80-90% yield) with sulfuric acid. Solid phase extraction was used to isolate the lactone and change the solvent before reduction to [1-11C]1,4-butanediol. Dimesylation of the diol with methanesulfonyl chloride in dichloromethane/pyridine yielded [1-11C]busulphan with conversions in the order of 30-35%. The total time of synthesis, including HPLC purification, was 65-75 min from the end-of-trapping of [11C]ammonium cyanide. The decay-corrected isolated yield of no-carrier-added [11C]busulphan was 4-7% and the radiochemical purity was better than 99%.
Int J Rad Appl Instrum A 1991
PMID:11C-labeling of busulphan. 166 12

So far, quantitative techniques, such as PCR and FISH, have been used to detect of DNA and RNA. However, it is difficult to measure and compare the exact amount of amplified products with the results of endpoint analysis in conventional PCR techniques. Theoretically, there is a quantitative relationship between amount of starting target sequence and amount of PCR product at any given cycle. The development of real-time quantitative PCR (RQ-PCR) has eliminated the variability associated with conventional quantitative PCR, thus allowing the routine and reliable quantitation of PCR products. Detection of fluorescence during the thermal cycling process can be performed using iCycler(Bio-Rad), the GeneAmp 5700 or 7700(ABI-PRISM), and Light-Cycler(Roche). Two fluorogenic probes are available for use on real time quantitation. The fluorogenic 5'-nuclease assay(Taqman method) uses a fluorogenic probe to enable the detection of a sequence specific PCR product. Fluorogenic probe is incorporated with the reporter dye on the 5' end and the quencher on the 3' end. The second method uses SYBR Green I dye which is a highly specific double-stranded DNA binding dye. Real-time PCR is able to be possible exact quantitation of DNA and RNA much more precise and reproducible because it is based on CT values acquired during the exponential phase of PCR rather than endpoint. In this review, the detail protocol of real time quantitative PCR technique will be introduced and our recently developed system for exact quantitation of BCR-ABL fusion gene in CML is going to be described.
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PMID:[Real time quantitative PCR]. 1170 18

Accurate detection of BCR-ABL fusion transcripts at and below molecular response (MR) 4 (0.01% International Scale [IS]) is required for disease monitoring in patients with chronic myeloid leukemia (CML). We evaluated the analytical performance of the QXDx BCR-ABL %IS (Bio-Rad, Hercules, CA, USA) droplet digital PCR (ddPCR) assay, which is the first commercially available ddPCR-based in vitro diagnostics product. In precision analysis, the %CV was 9.3% and 3.0%, with mean values of 0.031% IS and 9.4% IS, respectively. The assay was linear in the first order, ranging from 0.032% IS to 20% IS. The manufacturer-claimed limit of blank, limit of detection, and limit of quantification were verified successfully. There was a very strong correlation between the results of the QXDx BCR-ABL %IS ddPCR assay and the ipsogen BCR-ABL1 Mbcr IS-MMR (Qiagen, Hilden, Germany) real-time quantitative PCR assay (r=0.996). In conclusion, the QXDx BCR-ABL %IS ddPCR assay can provide reliable results for CML patients.
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PMID:Performance Evaluation of the QXDx BCR-ABL %IS Droplet Digital PCR Assay. 3143 43

The epidemic of type 2 diabetes mellitus (T2DM) is an important global health concern. Our earlier epidemiological investigation in Pakistan prompted us to conduct a molecular investigation to decipher the differential genetic pathways of this health condition in relation to non-diabetic controls. Our microarray studies of global gene expression were conducted on the Affymetrix platform using Human Genome U133 Plus 2.0 Array along with Ingenuity Pathway Analysis (IPA) to associate the affected genes with their canonical pathways. High-throughput qRT-PCR TaqMan Low Density Array (TLDA) was performed to validate the selected differentially expressed genes of our interest, viz., ARNT, LEPR, MYC, RRAD, CYP2D6, TP53, APOC1, APOC2, CYP1B1, SLC2A13, and SLC33A1 using a small population validation sample (n = 15 cases and their corresponding matched controls). Overall, our small pilot study revealed a discrete gene expression profile in cases compared to controls. The disease pathways included: Insulin Receptor Signaling, Type II Diabetes Mellitus Signaling, Apoptosis Signaling, Aryl Hydrocarbon Receptor Signaling, p53 Signaling, Mitochondrial Dysfunction, Chronic Myeloid Leukemia Signaling, Parkinson's Signaling, Molecular Mechanism of Cancer, and Cell Cycle G1/S Checkpoint Regulation, GABA Receptor Signaling, Neuroinflammation Signaling Pathway, Dopamine Receptor Signaling, Sirtuin Signaling Pathway, Oxidative Phosphorylation, LXR/RXR Activation, and Mitochondrial Dysfunction, strongly consistent with the evidence from epidemiological studies. These gene fingerprints could lead to the development of biomarkers for the identification of subgroups at high risk for future disease well ahead of time, before the actual disease becomes visible.
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PMID:Transcriptional Profiling and Biological Pathway(s) Analysis of Type 2 Diabetes Mellitus in a Pakistani Population. 3282 25