title: Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy.
abstract: Most known mutations in the gene region responsible for Duchenne or Becker muscular dystrophy are deletions of varying extent. Here we describe a 220-kb insertion within the DMD/BMD gene that cosegregates with a somewhat atypical course of muscular dystrophy in a pedigree. The insertion is demonstrated by field-inversion gel electrophoresis as an enlarged SfiI fragment hybridizing to probe J-Bir, while neighboring SfiI fragments (detected by probes PERT 87 and J-66) are unchanged. Hybridization with DMD c-DNA probes did not reveal alterations in coding sequences. In this pedigree, the altered SfiI fragments provide convenient markers for carrier identification.
authors.affiliation: Department of Human Genetics, University of Würzburg, Federal Republic of Germany.
authors.forename: T
authors.initials: T
authors.lastname: Bettecken
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
mesh_terms: D015139:Blotting, Southern; D002648:Child; D004252:DNA Mutational Analysis; D015342:DNA Probes; D004587:Electrophoresis, Agar Gel / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes