title: Duchenne muscular dystrophy: high frequency of deletions.
abstract: DNA probes are available for Duchenne muscular dystrophy (DMD) carrier detection and prenatal diagnosis. With probes for about 25% of the proximal portion of the gene, we found the proximal probes detected deletions in 23% of nonselected DMD boys, while a single distal probe detected 17% more as deletions. The combined percentage was 39% for all probes tested. Prenatal diagnosis and carrier detection are more accurate if deletions are mapped rather than by use of restriction fragment length polymorphism analysis. The effort involved in screening all affected boys for deletions is considerably less, and provides an accurate genetic marker for subsequent prenatal diagnosis in the family and prospective counseling for female relatives. It seems likely that, once the entire gene (cDNA) is available for screening, most DMD boys will show deletions.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, NC 27710.
authors.forename: R J
authors.initials: RJ
authors.lastname: Bartlett
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: J
authors.initials: J
authors.lastname: Koh
authors.forename: L H
authors.initials: LH
authors.lastname: Yamaoka
authors.forename: J C
authors.initials: JC
authors.lastname: Chen
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: M C
authors.initials: MC
authors.lastname: Wapenaar
authors.forename: G J
authors.initials: GJ
authors.lastname: Van Ommen
authors.forename: E
authors.initials: E
authors.lastname: Bakker
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005821:Genetic Techniques; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree