Evidence for a sperm mutation resulting in Duchenne muscular dystrophy

Clin Genet. 1987 Sep;32(3):187-91. doi: 10.1111/j.1399-0004.1987.tb03352.x.

Abstract

DNA analysis of Xp21 markers in a family with two brothers affected with Duchenne muscular dystrophy (DMD) revealed that the mutation most likely had occurred in a grandpaternal sperm. There is therefore a low risk that the maternal aunts and their daughters are carriers of the DMD gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Genetic Markers
  • DNA