title: Origin of new mutations in Duchenne muscular dystrophy.
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.
mesh_terms: D004247:DNA / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers; D004247:DNA