A polymorphic DNA marker genetically linked to Huntington's disease

@article{Gusella1983APD,
  title={A polymorphic DNA marker genetically linked to Huntington's disease},
  author={James F. Gusella and Nancy S Wexler and P. Michael Conneally and S. L. Naylor and Mary Anne Anderson and Rudolph E. Tanzi and Paul C. Watkins and Kathleen A. Ottina and Margaret R. Wallace and Alan Y. Sakaguchi and Anne B. Young and Ira Shoulson and Ernesto Bonilla and Joseph B. Martin},
  journal={Nature},
  year={1983},
  volume={306},
  pages={234-238}
}
Family studies show that the Huntington's disease gene is linked to a polymorphic DNA marker that maps to human chromosome 4. The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder. 
Genetic Linkage of the Huntington’s Disease Gene to a DNA Marker
  • J. Gusella
  • Biology
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
  • 1984
ABSTRACT Recombinant DNA techniques have provided the means to generate large numbers of new genetic linkage markers. This technology has been used to identify a DNA marker that coinherits with the
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
Analysis of the polymorphism shown by the DNA probe G8 in eight South Wales families with Huntington's disease has confirmed close genetic linkage between this marker and the disorder, the most
DNA markers for nervous system diseases.
TLDR
The discovery of a DNA marker linked to Huntington's disease has opened new avenues of research into this disorder and may ultimately permit cloning and characterization of the defective gene.
Molecular genetics of human chromosome 4.
TLDR
A genetic linkage map including both conventional and DNA markers should soon span the entire chromosome and will undoubtedly lead to the localisation of other inherited disorders.
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families
TLDR
Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease and this results confirm the originally reported linkage between the loci and provide evidence against significant multilocus heterogeneity for Huntington disease.
Genetic linkage studies of human neurodegenerative disorders
  • R. Tanzi
  • Biology
    Current Opinion in Neurobiology
  • 1991
Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
TLDR
Analysis of linkage disequilibrium in Scottish families showed significant non-random association between the HD gene and alleles at the D4S95 and D4s98 loci, adding to previous evidence that the HD locus is not sited at the telomere of chromosome 4.
Genetic linkage between Huntington's disease and D4S10(G8) in Scottish families
TLDR
Genetic linkage between Huntington's disease and polymorphic DNA markers at the D4S10 locus has been investigated in 16 Scottish families, and only one obvious recombinant was detected.
Non-random association between DNA markers and Huntington disease locus in the Italian population.
A group of Huntington disease (HD) families of Italian ancestry was analyzed for 11 RFLPs from genetic loci mapped in 4p16 and genetically linked to the HD gene. We found a statistically significant
History of genetic disease: The molecular genetics of Huntington disease — a history
  • G. Bates
  • Medicine, Biology
    Nature Reviews Genetics
  • 2005
TLDR
The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion and powerful genetic models are now equipped that continue to uncover new aspects of the pathogenesis of Huntington disease.
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