title: Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction.
abstract: The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19q12-q13.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 15 1/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.
authors.affiliation: Department of Molecular and Cell Biology, University of Aberdeen Medical School, Foresterhill, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Clark
authors.forename: K F
authors.initials: KF
authors.lastname: Kelly
authors.forename: N
authors.initials: N
authors.lastname: Smith
authors.forename: N
authors.initials: N
authors.lastname: Fairweather
authors.forename: T
authors.initials: T
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Johnston
authors.forename: N E
authors.initials: NE
authors.lastname: Haites
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D015193:Chorionic Villi Sampling; D015342:DNA Probes; D004276:DNA, Satellite / Q000032:analysis; D005260:Female; D006801:Humans; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite