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


Journal Article

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.

Full Text

Cited Authors

  • Bakker, E; Hofker, MH; Goor, N; Mandel, JL; Wrogemann, K; Davies, KE; Kunkel, LM; Willard, HF; Fenton, WA; Sandkuyl, L

Published Date

  • March 1, 1985

Published In

Volume / Issue

  • 1 / 8430

Start / End Page

  • 655 - 658

PubMed ID

  • 2858615

Pubmed Central ID

  • 2858615

Electronic International Standard Serial Number (EISSN)

  • 1474-547X

International Standard Serial Number (ISSN)

  • 0140-6736

Digital Object Identifier (DOI)

  • 10.1016/s0140-6736(85)91325-x


  • eng