Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

Lancet. 1985 Mar 23;1(8430):655-8. doi: 10.1016/s0140-6736(85)91325-x.


By the use of a series of closely linked DNA probes detecting restriction fragment length polymorphisms (RFLPs) distributed over the short arm of the X chromosome, a double crossover was detected in a Duchenne muscular dystrophy carrier and an affected male fetus was diagnosed at 12 weeks of gestation, with a probable accuracy of more than 99.0%. A new mutation was identified in another family with the same degree of reliability; three females in this family were thus deemed not to be DMD carriers. The eleven RFLP-markers presently available on the short arm of the X chromosome are useful in the diagnosis of DMD since they bridge the Duchenne locus at genetic distances varying between 3 and 20 cmo. Moreover, recombination within the set of markers provides an independent way of regionally mapping these probes relative to each other along the short arm of the X chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genetic Carrier Screening
  • Genetic Markers
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Prenatal Diagnosis*


  • Genetic Markers