Résumés
Résumé
La technique PRINS (primed in situ labelling ou synthèse in situ amorcée) est une technique non isotopique de cytogénétique moléculaire qui permet l’analyse microscopique de séquences d’ADN nucléaire sur chromosomes mitotiques et dans les noyaux interphasiques. Elle constitue une excellente alternative à la technique FISH (fluorescence in situ hybridization). Parmi les multiples avantages qui caractérisent la technique PRINS, on retiendra sa grande spécificité, sa sensibilité, sa rapidité d’exécution et son faible coût de revient. La réaction PRINS peut être combinée à d’autres techniques telles que la technique FISH, l’immunofluorescence indirecte et la technique de « translation de coupure ». Les développements récents témoignent du grand potentiel de cette technique qui permet notamment la détection de gènes en copie unique impliqués dans certaines maladies. La variété de ces applications font de la technique PRINS un outil cytogénétique de choix, en clinique comme en recherche.
Summary
As a non-isotopic molecular cytogenetic technique, the primed insitu (PRINS) labelling reaction represents a major technological progress achieved in the past decade. It has become a routine technique for the microscopic visualization of specific DNA sequences in cells and nuclei and constitutes a good alternative to the fluorescence in situ hybridization (FISH) procedure. Among the multiple advantages that characterize the PRINS technique, specificity, rapidity, reliability, reproducibility, and cost-effectiveness can be mentioned. PRINS can be in addition associated with other techniques like FISH, indirect immunofluorescence, and nick translation. The most recent developments show the great potential of this technique. Now PRINS can be used to study single-copy genes and, consequently, can be routinely used to investigate deletions associated with microdeletion syndromes. Therefore, the PRINS technique has the potential to become a widely used molecular cytogenetic tool in clinics and research. This short review presents how the PRINS technique contributed to further the understanding of biological phenomena and describes the different possibilities and applications of the PRINS method in several biological and clinical fields (pre-implantation testing, prenatal, constitutional and oncologic genetic diagnosis).
Parties annexes
Références
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