Pedigree testing in Duchenne muscular dystrophy

Annals of Neurology
A D RosesC R Roe

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 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.

References

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Citations

Jan 1, 1980·Human Genetics·G A DanieliA Bonfante
Jun 1, 1984·Biochemical Society Transactions·S V Perry
Nov 1, 1979·Journal of the Neurological Sciences·R J LaneJ N Walton
Jan 1, 1992·Journal of the Neurological Sciences·M Ben HamidaH Zaiem
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Feb 3, 2004·Muscle & Nerve·James M Gilchrist, George M Sachs
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Feb 1, 1988·American Journal of Medical Genetics·T GrimmC R Muller
Jan 1, 1984·Human Genetics·G A Danieli, G Barbujani
May 1, 1979·Clinical Genetics·A E EmeryS Holloway

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