[Procedure and initial results of presymptomatic DNA studies in Huntington's chorea]

Ned Tijdschr Geneeskd. 1990 Apr 7;134(14):704-7.
[Article in Dutch]

Abstract

The availability of DNA-markers more tightly linked to the Huntington's disease locus made presymptomatic and exclusion testing possible with an accuracy of up to 98%. The testing programme started in Leiden in August 1987. In 56 adults with 25% and 50% risks presymptomatic tests were performed. In 8 persons the risk was increased to 98%, in 17 it was decreased to less than 5%. In two instances the test was not informative. The remaining 29 persons have not yet been tested for different reasons. So far 3 exclusion tests were requested: one showed a decreased risk, one has not yet been performed and one request was rejected. The results and the reactions to the test are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • DNA / analysis*
  • Female
  • Genetic Carrier Screening*
  • Genetic Markers / analysis
  • Humans
  • Huntington Disease / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Reproducibility of Results

Substances

  • Genetic Markers
  • DNA