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- Xiang, F, et al.
(author)
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A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
- 1998
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 63:5, s. 1431-8
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Journal article (peer-reviewed)abstract
- 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.
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- Zhang, Z, et al.
(author)
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Gene mapping of the Rett syndrome
- 1997
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In: EUROPEAN CHILD & ADOLESCENT PSYCHIATRY. - 1018-8827. ; 6, s. 95-95
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Conference paper (other academic/artistic)
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