Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

Prenat Diagn. 1991 Jul;11(7):467-70. doi: 10.1002/pd.1970110710.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blotting, Southern
  • Chorionic Villi Sampling*
  • DNA Probes
  • DNA, Satellite / analysis
  • Female
  • Humans
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Pregnancy

Substances

  • DNA Probes
  • DNA, Satellite