title: Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
abstract: By the use of a series of closely linked DNA probes detecting restriction fragment length polymorphisms (RFLPs) distributed over the short arm of the X chromosome, a double crossover was detected in a Duchenne muscular dystrophy carrier and an affected male fetus was diagnosed at 12 weeks of gestation, with a probable accuracy of more than 99.0%. A new mutation was identified in another family with the same degree of reliability; three females in this family were thus deemed not to be DMD carriers. The eleven RFLP-markers presently available on the short arm of the X chromosome are useful in the diagnosis of DMD since they bridge the Duchenne locus at genetic distances varying between 3 and 20 cmo. Moreover, recombination within the set of markers provides an independent way of regionally mapping these probes relative to each other along the short arm of the X chromosome.
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: M H
authors.initials: MH
authors.lastname: Hofker
authors.forename: N
authors.initials: N
authors.lastname: Goor
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: K
authors.initials: K
authors.lastname: Wrogemann
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
authors.forename: H F
authors.initials: HF
authors.lastname: Willard
authors.forename: W A
authors.initials: WA
authors.lastname: Fenton
authors.forename: L
authors.initials: L
authors.lastname: Sandkuyl
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers