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Lemonnier, F. et al. Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with TFH-like features and adverse clinical parameters.
We hypothesize that, in a wide spectrum of selective pressures, this sort of changes confer greater fitness to the organism than the type of changes produced by mutations in peripheral promoters.
Therefore ddPCR has the potential to detect small amounts of mutations in peripheral blood.
We then optimized this PCR technique to detect SQSTM1/P92L post-zygotic mutations in peripheral blood of patients with PDB.
High-throughput DNA sequence analysis was used to screen for TET2 mutations in peripheral blood derived DNA from 97 patients with BCR-ABL-negative myeloproliferative neoplasms (MPNs).
These results suggested that this LNA PCR-clamping method was effective to detect SQSTM1/P392L post-zygotic mutations in peripheral blood of pagetic patients.
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Mutational analysis is performed to search for the predisposing RB1 gene mutation in peripheral blood of patients with RB, but the molecular diagnosis requires several technical approaches to cover the entire field of oncogenic RB1 defects, frequently resulting in numerous, expensive and time consuming procedures.
Furthermore, the diagnosis of the mutation in peripheral blood as well as the detection of increased levels of 2HG by MRI in the brain are actively pursued and initial results are available [ 12, 13].
In this study, we developed an LNA PCR-clamping method reliable to detect a GNAS/R201L post-zygotic mutation in peripheral blood of one patient with McCune Albright syndrome, but none of FD patients, which represents a mutation rate similar to the one reported in the literature (Lietman et al. 2005).
HIV drug resistance mutations both in peripheral blood mononuclear cells (PBMCs) and plasma have the ability to influence the outcome of highly active antiretroviral therapy for HIV patients.
The GPA assay measures stem cell or precursor erythroid cell mutations expressed in peripheral red blood cells of MN heterozygous subjects, identifying NN variants, which result from loss of the GPA M allele and duplication of the N allele, and N phi variants, which arise from gene inactivation.
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