New mutations in the dystrophin gene in patients with muscular Dushenn dystrophy

Аghayeva S. A., Mammadov A. M., Mammadbeyli A. K., Valiyeva L. S.

Mutations in the dystrophin gene are the cause of Duchenne muscular dystrophy (DMD), a severe neuromuscular disease that causes death in male patients in 20 years. For the first time, a molecular methods used for analysing the structure of this gene in member of two ethnically different families from Azerbaijan with a diagnosis of DMD. Two distinct mutations were identified (a deletion of a large region spanning 13 exons ((8 to 20) and a deletion of exon 45) associated with two different ethnic groups of the population of Azerbaijan. The research work was carried out in the laboratory of human genetics of the Institute of Genetic Resources of Azerbaijan National Academy of Sciences and the laboratory of Molecular Biology and Genetics of Western Caspian University.

Keywords:Duchenne muscular dystrophy, creatine phosphokinase, dystrophin gene, exon, mutation