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A highly polymorphic locus very tightly linked to the Huntington's disease gene
J J Wasmuth1, J Hewitt, B Smith
1Department of Biological Chemistry, University of California, Irvine 92717.
Nature
|April 21, 1988
Summary
Researchers identified a new DNA marker, D4S95, that is very close to the Huntington
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Huntington's disease (HD) is an inherited neuropsychiatric disorder with an undefined genetic cause.
- Previous linkage of HD to DNA marker D4S10(G8) offered a path for gene isolation and limited predictive testing.
- Difficulty in finding closer DNA markers hindered gene identification and accurate predictive testing for Huntington's disease.
Purpose of the Study:
- To characterize a newly isolated DNA marker, D4S95, for its utility in Huntington's disease research.
- To improve the accuracy and applicability of predictive testing for Huntington's disease.
- To establish a new starting point for cloning the Huntington's disease gene.
Main Methods:
- Directed cloning strategy to isolate new DNA markers near the Huntington's disease gene.
- Characterization of the D4S95 marker.
- Testing for recombination between D4S95 and the Huntington's disease gene in families.
Main Results:
- The D4S95 marker was isolated and characterized.
- D4S95 is a highly polymorphic locus.
- No recombination was observed between D4S95 and the Huntington's disease gene in tested families.
Conclusions:
- The D4S95 marker's high polymorphism and proximity make it highly valuable for Huntington's disease predictive testing.
- D4S95 serves as a crucial new starting point for efforts to clone the gene responsible for Huntington's disease.
- This finding significantly advances the potential for identifying the genetic defect in Huntington's disease.