Détection des mutations ponctuelles par des techniques de Fingerprinting : application en épidémiologie moléculaire

Abstract : Currently, the epidemiology of cancer encounterssome problems of which the often long time between the genotoxic exposure and the detection of the disease. To overcome this limitation, molecular epidemiology analyses earlier lesions, called biomarkers, of which most interesting are point mutations in oncogenes and tumor suppressor genes. P53 is notably one of the most mutated. With an aim of detecting these mutations, our work evaluates the fingerprinting techniques coupled to an amplification by PCR. Of the three potentially usable techniques, arbitrary amplification, amplification/restriction and preferentia! amplification, the last appeared most relevant for the detection of induced mutations. In order to detect G>T transversion of the 273 [exponent rd] codon of the P53 gene, we first in vitro validated this technique on cell lines then we've made a in vivo study on workers with occupational exposure. Underlining the importance of the DNA collection, the sensitivity thresholds and enzymatic polymorphisms, this work thus shows interest of using fingerprinting in molecular epidemiology.
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Theses
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http://docnum.univ-lorraine.fr/prive/SCD_T_2006_0225_CARTON.pdf
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https://hal.univ-lorraine.fr/tel-01746975
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Submitted on : Thursday, March 29, 2018 - 10:48:54 AM
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Thomas Carton. Détection des mutations ponctuelles par des techniques de Fingerprinting : application en épidémiologie moléculaire. Médecine humaine et pathologie. Université Henri Poincaré - Nancy 1, 2006. Français. ⟨NNT : 2006NAN10225⟩. ⟨tel-01746975⟩

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