title: Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.
abstract: Duchenne muscular dystrophy (DMD), with an incidence of one in 3500 male new borns, and its milder variant, Becker muscular dystrophy (BMD), are allelic X-linked recessive disorders, caused by mutations in the gene coding for dystrophin, a 427 kD cytoskeleton protein. There are no available molecular markers to differentiate these two. The purpose of this study was to study genetic polymorphism in muscular dystrophy and explore its potential in discriminating these two allelic forms of the disease. The results revealed unambiguously the presence of three transcripts : 598bp, 849bp and 1583bp long which are selectively expressed in the muscles afflicted with muscular dystrophy as compared to the normal muscle. 1583bp gene transcript was conspicuously present in the muscle tissues of both DMD and BMD patients whereas 598bp and 849bp long transcripts were exclusively present in DMD but not in BMD patients or normal human subjects. These gene transcripts had no sequence homology with dystrophin gene and these were also present in the families belonging to DMD and BMD patients. These results point to the fact that based upon the selective expression of these three gene transcripts, one could not only differentiate between DMD and BMD diseases at the molecular level, but also between normal and dystrophic muscle. Further, these findings also reveal that apart from dystrophin gene, these gene transcripts may also be responsible for the differential progression of DMD/BMD phenotype.
authors.affiliation: Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
authors.forename: A
authors.initials: A
authors.lastname: Anand
authors.forename: S
authors.initials: S
authors.lastname: Prabhakar
authors.forename: D
authors.initials: D
authors.lastname: Kaul
mesh_terms: D001706:Biopsy; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011110:Polymorphism, Genetic; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D005819:Genetic Markers