Pedigree testing in Duchenne muscular dystrophy.


Journal Article

Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier-detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 megative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.

Full Text

Cited Authors

  • Roses, AD; Roses, MJ; Metcalf, BS; Hull, KL; Nicholson, GA; Hartwig, GB; Roe, CR

Published Date

  • October 1, 1977

Published In

Volume / Issue

  • 2 / 4

Start / End Page

  • 271 - 278

PubMed ID

  • 617266

Pubmed Central ID

  • 617266

Electronic International Standard Serial Number (EISSN)

  • 1531-8249

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.410020403


  • eng