Molekulárno-genetická analýza delécií pri progresívych svalových dystrofiách typu Duchenne a Becker.

Translated title of the contribution: Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy

L. Kádasi, J. Gécz, L. Saksová, M. Thurzová

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2 Citations (Scopus)


Methods of molecular genetics (Southern's hybridization and DNA amplification by the PCR method) were used to search the DNA of patients suffering from the Duchenne (DMD) and the Becker (BMD) type of progressive muscular dystrophy for deletions in the dystrophin gene. The series consisted of 29 patients with DMD and 2 patients with BMD. As hybridization probes cloned cDNA sections were used designated as CF56a, CF56b, 1-2a, 2b-3, 4-5a, 5b-7 and 8. With the PCR methods means for exons 8, 19, 45 and 48 were used. No deletion was found in either of the BMD patients. In 13 (44.8%) of the 29 DMD patients deletion with at least one cDNA probe was found. Most deletions were detected with the probes 8 (46.2%) and 1-2a (30.8%). The high proportion of deletions in the etiology of DMD/BMD has both a high differential diagnostic value and allows to make direct prenatal diagnosis as well as to determine transmission in these families with subsequent elimination of the risk of diagnostic error resulting from recombination in DNA diagnosis by means of binding. (Tab. 1, Fig. 2, Ref. 20.)

Original languageSlovak
Pages (from-to)249-253
Number of pages5
JournalBratislavské lekárske listy
Issue number5
Publication statusPublished - 1 Jan 1993
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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