A Huntington disease-like neurodegenerative disorder maps to chromosome 20p

Fengqing Xiang, Elisabeth W. Almqvist, Mahbubul Huq, Anders Lundin, Michael R. Hayden, Lars Edström, Maria Anvret, Zhiping Zhang

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


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, wholegenome 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.

Original languageEnglish
Pages (from-to)1431-1438
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number5
StatePublished - 1998


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