[Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy]

Wien Klin Wochenschr. 1991;103(7):207-9.
[Article in German]

Abstract

For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • DNA Probes*
  • Genetic Carrier Screening*
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Sex Chromosome Aberrations / diagnosis
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*

Substances

  • DNA Probes