title: Update on the molecular genetics of Duchenne muscular dystrophy.
abstract: Three separate lines of evidence led to the assignment of the Duchenne muscular dystrophy (DMD) gene to the 21.2 band on the short arm of the X chromosome. A portion of the putative gene, thought to extend over 1-2 million base pairs has been recently cloned. DNA probes from the Xp21.2 region detect large deletions in 5-20% DMD boys and are presumed to lead to the DMD phenotype in those individuals. Deletions have also been noted in the DNA of patients with Becker muscular dystrophy. These exciting developments have a direct bearing on carrier detection and prenatal diagnosis. Prenatal diagnosis in deletion families approaches greater than 99% accuracy and can be utilized to save 50% of normal male fetuses carried by carrier mothers who would otherwise choose to abort all male fetuses.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: T
authors.initials: T
authors.lastname: Siddique
authors.forename: R
authors.initials: R
authors.lastname: Bartlett
authors.forename: M
authors.initials: M
authors.lastname: Pericak-Vance
authors.forename: L
authors.initials: L
authors.lastname: Yamaoka
authors.forename: J
authors.initials: J
authors.lastname: Koh
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: R
authors.initials: R
authors.lastname: Kandt
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
mesh_terms: D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D004247:DNA