Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction.
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.
Clark
C
C
Department of Molecular and Cell Biology, University of Aberdeen Medical School, Foresterhill, U.K.
Kelly
K F
KF
Smith
N
N
Fairweather
N
N
Brown
T
T
Johnston
A
A
Haites
N E
NE
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
D015342:DNA Probes; D004276:DNA, Satellite