Summary
The Huntington’s disease (HD) gene has been mapped to the short arm of human chromosome 4 by genetic linkage analysis and located within the most telomeric subband 4pl6.3, between the anonymous DNA marker D4S10 and the telomere. Physical mapping and cloning strategies have been used to complement genetic analysis in determining the location of the HD mutation. All available DNA markers within 4pl6.3 have been used to construct a long range restriction map, consisting of three map segments together spanning 5 million base pairs (Mb) and extending minimally 4 Mb from D4S10 (the most proximal marker). Although genetic analysis is contradictory and suggests two possible positions for the gene, a telomeric location is highly probable, within 300 kilobase pairs (kb) from the end of the map. A telomere cloning vector has been constructed for the isolation and selection of human telomeres as artificial chromosomes in Saccharomyces cerevisiae. This has been used to clone the most distal 100 kb of the short arm of chromosone 4, confirming that the end of the long range map is the telomere and, for the first time, setting a distal limit to the position of the HD gene.
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Bates, G., Lehrach, H. (1990). Molecular Approaches Toward the Isolation of the Huntington’s Disease Gene. In: Bulyzhenkov, V., Christen, Y., Prilipko, L. (eds) Genetic Approaches in the Prevention of Mental Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-07421-3_7
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DOI: https://doi.org/10.1007/978-3-662-07421-3_7
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