Login
Communauté Vinci
Extérieur
Si votre nom d'utilisateur ne se termine pas par @vinci.be ou @student.vinci.be, utilisez le formulaire ci-dessous pour accéder à votre compte de lecteur.
Titre : | Recherche de mutations dans lexon 9 du gène de la calréticuline: Réévaluation du seuil de positivité au niveau de la position 250 pb |
Auteurs : | Amina TIJARTI, Auteur ; Pascale Saussoy, Promoteur |
Type de document : | Travail de fin d'études |
Editeur : | Bruxelles : Institut Paul Lambin, 2020 |
Langues: | Français |
Index. décimale : | TFE - Biologie médicale |
Résumé : |
Background: Somatic mutations in the exon 9 of the calreticulin (CALR) gene have been reported in 23-33% of patients with primary myelofibrosis (MFP) and essential thrombocythemia (ET). The diagnosis of theses mutations is based on the molecular methods. However, the interpretation of the CALR results remains problematic in the 250bp position because of its systematic presence of a peak at this level whose amplitude tends to grow over time.
Method: In order to investigate the factors that influence peak surfaces at the 250 bp position, we randomly included six patients followed in hematology consultation for suspicion of NMP with JAK2 not mutated and one patient who previously showed, in addition to the wildtype peak (WT), a clearly visible peak at 250 bp for CALR. The search for the CALR mutation is carried out by PCR Endpoint followed by capillary electrophoresis. Results: The CVs on the peak area are less than or equal to 20 % for the WT peak. The CVs on the peak area at 250 bp that are greater than 20 % give the same conclusion (positive or negative for the variant) according to the current positivity threshold, with the exception of one patient whose results are negative and positive for the variant, this demonstrates the problem of the current threshold and the need to continue the research. At 10x dilution, the results are mostly off-scale. There is no correlation between the peak area of the WT and the peak area of the 250 bp for the 10x and 20x dilution. Conclusions: The experiments carried out are quite insufficient to provide statistically significant results and to draw relevant conclusions. Due to the global health crisis caused by COVID-19, the research work could not be completed and the problem of interpreting the results at the 250 bp position remains unclear. |
Accès : | Identifiez-vous avant d'accéder au document électronique |
Disponible en ligne : | Oui |
Lieu du stage : | La Tour Rosalind Franklin-Cliniques Universitaires Saint-Luc : Laboratoire de biologie moléculaire |
Département : | Biologie médicale |
Documents numériques (1)
Ce document n'est visible qu'après identification
TFE biologie médicale Adobe Acrobat PDF |