DIAGNOSTIC PHYSIOPATHOLOGIE ET GENETIQUE DE LA MUCOVISCIDOSE DANS UNE POPULATION INFANTILE DEL’EST ET DU SUD ALGERIEN
الكلمات المفتاحية:
Fibrose cystique، mucoviscidose، mutations CFTR، diagnostic génétique du CF، symptômes cliniquesالملخص
Afin d’effectuer un diagnostic phénotypique et génotypique de la mucoviscidose chez une partie de la population algérienne, notre étude a été réalisée sur 16 enfants avec des symptômes évocateurs de la mucoviscidose chez lesquels le contexte clinique a été confirmé par un test de la sueur. Cependant, les anomalies du gène CFTR ont été déterminées par électrophorèse en gel de polyacrylamide (10٪) des produits PCR (Polymerase Chain Reaction), après digestion enzymatique, puis visualisation aux ultraviolets (UV) après action du bromure d’éthidium.Toutes les mutations détectées lors de notre étude ont déjà été identifiées chez des patients atteints par cette pathologie dans les pays du pourtour du bassin méditerranéen. Toutefois, le nombre important de mutations trouvé par rapport à celui des patients étudiés témoigne que l’origine de cette grande variabilité clinique qui caractérise la maladie est la conséquence d’une grande diversité des défauts moléculaires du gène CFTR.
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