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A Huntington diseas...
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
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- Xiang, F (författare)
- Karolinska Institutet
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Almqvist, E W (författare)
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Huq, M (författare)
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Lundin, A (författare)
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Hayden, M R (författare)
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Edström, L (författare)
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Anvret, M (författare)
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Zhang, Z (författare)
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(creator_code:org_t)
- Elsevier BV, 1998
- 1998
- Engelska.
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 63:5, s. 1431-8
- Relaterad länk:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. The disease is associated with a CAG trinucleotide-repeat expansion in the Huntington gene (IT15) on chromosome 4p16.3. One family with a history of HD was referred to us initially for predictive testing using linkage analysis. However, the chromosome 4p region was completely excluded by polymorphic markers, and later no CAG-repeat expansion in the HD gene was detected. To map the disease trait segregating in this family, whole-genome screening with highly polymorphic dinucleotide-, trinucleotide-, and tetranucleotide-repeat DNA markers was performed. A positive LOD score of 3.01 was obtained for the marker D20S482 on chromosome 20p, by two-point LOD-score analysis with the MLINK program. Haplotype analysis indicated that the gene responsible for the disease is likely located in a 2.7-cM region between the markers D20S193 and D20S895. Candidate genes from the mapping region were screened for mutations.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Omvårdnad (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nursing (hsv//eng)
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- ref (ämneskategori)
- art (ämneskategori)
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