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Geographical distribution of haplotypes in Swedish families with Huntington's disease.
Karolinska institutet.
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1994 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 94, no 2, p. 124-8Article in journal (Refereed) Published
Abstract [en]

This study was planned to determine the number of origins of the mutation underlying Huntington's disease (HD) in Sweden. Haplotypes were constructed for 23 different HD families, using six different polymorphisms [(CCG)n, GT70, 674, BS1, E2 and 4.2], including two within the gene. In addition, extensive genealogical investigations were performed, and the geographical origin of the haplotypes was studied. Ten different haplotypes were observed suggesting multiple origins for the HD mutation in Sweden. Analysis of the two polymorphic markers within the HD gene (the CCG repeat and GT70) indicates that there are at least three origins for the HD mutation in Sweden. One of these haplotypes (7/A) accounts for 89% of the families, suggesting that the majority of the Swedish HD families are related through a single HD mutation of ancient origin. Furthermore, three of the families that were previously considered to be unrelated could be traced to a common ancestor in the 15th century, a finding that is consistent with this hypothesis.

Place, publisher, year, edition, pages
1994. Vol. 94, no 2, p. 124-8
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Nursing
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URN: urn:nbn:se:esh:diva-7475PubMedID: 8045558OAI: oai:DiVA.org:esh-7475DiVA, id: diva2:1315899
Available from: 2019-05-15 Created: 2019-05-15 Last updated: 2019-05-21Bibliographically approved

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