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A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
Karolinska institutet.
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1998 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 63, no 5, p. 1431-8Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
1998. Vol. 63, no 5, p. 1431-8
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Nursing
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URN: urn:nbn:se:esh:diva-7488DOI: 10.1086/302093PubMedID: 9792871OAI: oai:DiVA.org:esh-7488DiVA, id: diva2:1317220
Available from: 2019-05-22 Created: 2019-05-22 Last updated: 2019-05-22Bibliographically approved

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