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Pedigree testing in duchenne muscular dystrophy

✍ Scribed by Dr. A. D. Roses; M. J. Roses; B. S. Metcalf; K. L. Hull; G. A. Nicholson; G. B. Hartwig; C. R. Roe

Publisher: John Wiley and Sons
Year: 1977
Tongue: English
Weight: 613 KB
Volume: 2
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410020403

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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