Origin of new mutations in Duchenne muscular dystrophy

Hum Genet. 1986 Dec;74(4):456-60. doi: 10.1007/BF00280507.

Abstract

Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Mutation*
  • Pedigree
  • Polymorphism, Restriction Fragment Length

Substances

  • Genetic Markers
  • DNA