Abstract
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.
Original language | English |
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Pages (from-to) | 456-460 |
Number of pages | 5 |
Journal | Human Genetics |
Volume | 74 |
Issue number | 4 |
DOIs | |
Publication status | Published - Dec 1986 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics