title: Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.
abstract: A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.
authors.affiliation: Institut für Humangenetik, Universitätskliniken, Göttingen, Federal Republic of Germany.
authors.forename: S
authors.initials: S
authors.lastname: Niemann-Seyde
authors.forename: R
authors.initials: R
authors.lastname: Slomski
authors.forename: F
authors.initials: F
authors.lastname: Rininsland
authors.forename: U
authors.initials: U
authors.lastname: Ellermeyer
authors.forename: J
authors.initials: J
authors.lastname: Kwiatkowska
authors.forename: J
authors.initials: J
authors.lastname: Reiss
mesh_terms: D001483:Base Sequence; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000235:genetics; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D015345:Oligonucleotide Probes