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Related Experiment Videos

Homozygotes for Huntington's disease.

N S Wexler, A B Young, R E Tanzi

    Nature
    |March 12, 1987
    PubMed
    Summary

    Huntington's disease (HD) homozygotes show complete dominance, meaning their symptoms are not more severe than heterozygotes. This finding challenges the typical understanding of dominant genetic disorders.

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    Area of Science:

    • Genetics
    • Neurodegenerative Diseases
    • Human Genetic Disorders

    Background:

    • Studying symptomatic individuals versus normal controls identifies biochemical abnormalities in recessive genetic diseases.
    • This approach is less successful for non-recessive disorders where one copy of an aberrant gene causes significant effects despite the presence of normal gene product.
    • Studying individuals homozygous for a mutant allele offers an alternative approach for dominant disorders.

    Purpose of the Study:

    • To investigate the phenotypic expression of homozygosity in dominant human genetic disorders.
    • To determine if Huntington's disease (HD) homozygotes exhibit more severe symptoms than heterozygotes.
    • To assess if HD displays complete or incomplete dominance.

    Main Methods:

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  • Comparison of symptomatic individuals with normal controls.
  • Analysis of homozygotes for mutant alleles in dominant disorders.
  • Identification of individuals likely homozygous for the HD mutation using the D4S10 locus and G8 probe.

    • Main Results:

    • Most dominant human disorders show more severe symptoms in homozygotes than heterozygotes, indicating incomplete dominance.
    • Homozygotes for Huntington's disease (HD) were identified using the D4S10 locus.
    • HD homozygotes did not differ in clinical expression or disease course from typical HD heterozygotes.

    Conclusions:

    • Huntington's disease (HD) exhibits complete phenotypic dominance.
    • HD is the first genetically documented human disease of homozygosity to display complete dominance.
    • The findings suggest that the normal allele may not play a significant role in ameliorating HD progression in heterozygotes.