1. [Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].
- Author
-
Zimowski JG, Bisko M, Fidziańska E, Hausmanowa-Petrusewicz I, Badurska B, Borkowska J, Lusakowska A, Fidziańska A, Jezuita J, and Zaremba J
- Subjects
- Chromosomes, Human, Pair 21, Dystrophin isolation & purification, Exons genetics, Female, Humans, Male, Muscular Dystrophies diagnosis, Muscular Dystrophies enzymology, Prenatal Diagnosis, X Chromosome, Dystrophin genetics, Gene Deletion, Muscular Dystrophies genetics
- Abstract
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.
- Published
- 1993