Pedigree testing in duchenne muscular dystrophy

A. D. Roses*, M. J. Roses, B. S. Metcalf, K. L. Hull, G. A. Nicholson, G. B. Hartwig, C. R. Roe

*Corresponding author for this work

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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 negative 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.

Original languageEnglish
Pages (from-to)271-278
Number of pages8
JournalAnnals of Neurology
Volume2
Issue number4
DOIs
Publication statusPublished - 1977
Externally publishedYes

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