Update on the molecular genetics of Duchenne muscular dystrophy.

Published

Journal Article (Review)

Three separate lines of evidence led to the assignment of the Duchenne muscular dystrophy (DMD) gene to the 21.2 band on the short arm of the X chromosome. A portion of the putative gene, thought to extend over 1-2 million base pairs has been recently cloned. DNA probes from the Xp21.2 region detect large deletions in 5-20% DMD boys and are presumed to lead to the DMD phenotype in those individuals. Deletions have also been noted in the DNA of patients with Becker muscular dystrophy. These exciting developments have a direct bearing on carrier detection and prenatal diagnosis. Prenatal diagnosis in deletion families approaches greater than 99% accuracy and can be utilized to save 50% of normal male fetuses carried by carrier mothers who would otherwise choose to abort all male fetuses.

Full Text

Duke Authors

Cited Authors

  • Siddique, T; Bartlett, R; Pericak-Vance, M; Yamaoka, L; Koh, J; Chen, J; Hung, WY; Kandt, R; Roses, AD

Published Date

  • January 1988

Published In

Volume / Issue

  • 24 Suppl 1 /

Start / End Page

  • 9 - 14

PubMed ID

  • 3060079

Pubmed Central ID

  • 3060079

International Standard Serial Number (ISSN)

  • 0004-993X

Language

  • eng