Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population

Gene Geogr. 1991 Dec;5(3):137-40.

Abstract

In 32 unrelated DMD patients originating from Slovakia (Czechoslovakia), screening for deletions in the dystrophin gene was performed with cDNA probes Cf56a, Cf56b, 1-2a, 2b-3 4-5a, 5b-7, and 8. In 14 out of 32 DMD patients (43.75 per cent), a deletion extending from one to three adjacent probes was observed. The highest proportion of deletions was found with probes 8 and 1-2a (50 and 28.6 per cent of all deletions, respectively). All these proportions are similar to those found in other populations of European origin.

MeSH terms

  • Czechoslovakia
  • DNA Probes
  • Dystrophin / genetics*
  • Gene Frequency
  • Humans
  • Muscular Dystrophies / genetics*
  • Mutation*

Substances

  • DNA Probes
  • Dystrophin