Journal de la Faculté de Médecine
Volume 1, Numéro 1, Pages 37-42

Etude De L’implication Du Polymorphisme Fonctionnel Arg72pro Du Gène Tp53 Dans La Survenue Du Cancer Colorectal Et Du Carcinome Basocellulaire Dans La Population De L’ouest Algérien

Auteurs : Abderrahmane Rym . Louhibi Lotfi . Boubekeur Amina . Moghtit Fatima Zohra .

Résumé

Abstract Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy, reaching one out of every 5000 male births in the world population. It is characterized by progressive muscular degeneration from a young age and leads to serious failures of the body which lead to the death of the patient. The gene responsible for DMD is located on chromosome X. It encodes a membrane cytoskeleton protein»the dystrophin». The alterations affecting this gene are essentially deletions with a proportion of 65%. That’s why we have interested to develop in our laboratory a technique that will allow us to detect this type of mutations in 5 sporadic cases with Duchenne myopathy from West Algeria. The study consisted in amplifying by PCR multiplex that cover 19 exons of the DMD gene most commonly deleted. This study allowed us to reveal two different deletions, the first involving the promoter of the gene and the second one the exon 43. These first results confirm the data reported in the literature which classify these two regions as deletion hotspots. The results obtained represent a first in the western Algerian and could lead to the generalization of genotypic diagnosis and genetic counseling with a view to improve the care of patients in Algeria.

Mots clés

Arg72Pro; TP53; colorectal cancer; basal cell carcinoma; West Algeria.