Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.

Abstract

The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases. We report here the identification of all ten classes of trinucleotide repeats within a 2 Mbp region of 4p16.3 containing the Huntington's disease (HD) gene. Fifty one triplet repeats were identified and localised on a high resolution restriction map of a cosmid contig covering this region. This included the triplet repeat (CAG)n, which has subsequently been shown to be expanded in Huntington's disease patients.

• Authors: H Hummerich, S Baxendale, R Mott, S F Kirby, M E MacDonald, J Gusella, H Lehrach, G P Bates
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 3 Issue 1 Pg. 73-8 (Jan 1994) ISSN: 0964-6906 [Print] England
• PMID: 8162055 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Base Sequence
• Chromosome Fragile Sites
• Chromosome Fragility
• Chromosome Mapping
• Chromosomes, Human, Pair 4
• Cosmids
• Genetic Diseases, Inborn (genetics)
• Humans
• Huntington Disease (genetics)
• Molecular Sequence Data
• Myotonic Dystrophy (genetics)
• Repetitive Sequences, Nucleic Acid
• Spinocerebellar Degenerations (genetics)