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Related Experiment Videos

Huntington's disease: prediction and prevention.

P S Harper1, O W Quarrell, S Youngman

  • 1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, U.K.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|June 15, 1988
PubMed
Summary

Genetic testing now allows presymptomatic prediction for Huntington's disease, a serious neurogenetic disorder. Ethical considerations and guidelines are crucial for its use, with prenatal exclusion offering an alternative for many families.

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Area of Science:

  • Genetics
  • Neurogenetics
  • Medical Ethics

Background:

  • Huntington's disease is a dominantly inherited neurogenetic disorder with late and variable onset.
  • Presymptomatic prediction was not previously possible for at-risk individuals.
  • The identification of a linked DNA marker offers new possibilities for genetic testing.

Purpose of the Study:

  • To evaluate the implications of a newly identified DNA marker linked to Huntington's disease.
  • To explore the potential for presymptomatic prediction and its ethical considerations.
  • To develop guidelines for genetic testing in neurogenetic disorders.

Main Methods:

  • DNA restriction fragment length polymorphism (RFLP) analysis.
  • Linkage analysis to confirm the association with Huntington's disease.

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  • Review and discussion of ethical considerations and professional guidelines.

    • Main Results:

    • A DNA marker closely linked to Huntington's disease on chromosome 4 short arm was identified.
    • Presymptomatic prediction is now feasible for at-risk relatives.
    • Studies confirmed the linkage and excluded multi-locus heterogeneity.
    • Prenatal exclusion testing is a viable alternative for most families.

    Conclusions:

    • Presymptomatic genetic prediction for Huntington's disease is now possible, aiding genetic counseling.
    • Ethical debates and guidelines are essential for the responsible use of predictive testing.
    • Prenatal exclusion offers a practical approach for risk assessment in pregnancies.
    • The experience with Huntington's disease can inform testing for other late-onset neurogenetic disorders.