A polymorphic DNA marker genetically linked to Huntington's disease

  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},
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.
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.
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
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.
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
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
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.


Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
A new basis for the construction of a genetic linkage map of the human genome is described, to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA.
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy
Evidence of an X-chromosome sequence, defined by its restriction enzyme polymorphism, that is loosely linked to DMD is presented, at a distance of approximately 10 centimorgans, as determined by studies on nine informative families.
Huntington's disease: genetically programmed cell death in the human central nervous system
Huntington's disease: genetically programmed cell death in the human central nervous system and its role in Parkinson's disease is studied.
Precise localization of human beta-globin gene complex on chromosome 11.
Cloned DNA probes were used in combination with a panel of five hybrid cell clones containing a series of different terminal deletions in human chromosome 11 to map precisely the human hemoglobin
Genetic linkage studies in Huntington's chorea
In an attempt to obtain information about the chromosomal localization of the gene responsible for Huntington’s chorea, linkage studies with 27 genetic marker systems were undertaken in the Netherlands, adding to the lodscores also the figures published recently from the United States and from Australia.
Mapping the human genome, cloned genes, DNA polymorphisms, and inherited disease.
Mapping the human genome involves partitioning the total number of genes into individual maps representing the 24 different human nuclear chromosomes and linearly ordering them on each chromosome and a similar exercise has mapped the 37 genes encoded in the DNA of the mitochondrial genome.
Isolation and localization of DNA segments from specific human chromosomes.
A library of genomic DNA segments has been constructed from the DNA of a somatic cell hybrid carrying a portion of human chromosome 11 on a Chinese hamster ovary cell background, and using a nucleic acid hybridization technique that distinguishes human and Chinese hamsters interspersed, repetitive DNA, this approach promises implications for human genetics generally, for the human genetic diseases, and possibly for understanding of gene regulation in normal and abnormal differentiation.
Huntington disease
The Commission for the Control of Huntington Disease and Its Consequences, established by the Ninety-Fourth United States Congress, recently completed an appraisal of clinical care of the patient and family with Huntington disease.