Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

Hum Genet. 1994 May;93(5):541-4. doi: 10.1007/BF00202820.


The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA)n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Dystrophin / genetics
  • Female
  • Gene Deletion
  • Germ-Line Mutation
  • Heterozygote*
  • Humans
  • Hybrid Cells
  • Male
  • Mosaicism*
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics


  • Dystrophin
  • RNA, Messenger