Summary
Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.
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References
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Roncuzzi, L., Ferlini, A., Pirozzi, A. et al. Origin of new mutations in Duchenne muscular dystrophy. Hum Genet 74, 456–460 (1986). https://doi.org/10.1007/BF00280507
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DOI: https://doi.org/10.1007/BF00280507