Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies

Hum Genet. 1991 Dec;88(2):179-84. doi: 10.1007/BF00206068.

Abstract

We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) were detected by multiplex polymerase chain reaction. All these deletions have been delineated with regard to the exon-containing HindIII fragments revealed by cDNA probes, and in two cases, junction fragments of altered size were seen. The correlation between phenotype and type of deletion agreed with the reading frame theory, except for two BMD and two DMD cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blotting, Southern
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • DNA Probes / genetics
  • Deoxyribonuclease HindIII / metabolism
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Exons / genetics
  • France
  • Humans
  • Infant, Newborn
  • Male
  • Muscular Dystrophies / genetics*
  • Mutation / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • DNA Probes
  • Dystrophin
  • Deoxyribonuclease HindIII