Ancestral differences in the distribution of the {Delta}2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease |
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| Authors: | Almqvist, E. Spence, N. Nichol, K. Andrew, S.E. Vesa, J. Peltonen, L. Anvret, M. Goto, J. Kanazawa, I. Goldberg, Y.P. Hayden, M.R. |
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| Affiliation: | 1Department of Medical Genetics, University of British Columbia 416-2125 East Mall, Vancouver, BC V6T 124, Canada 2Department of Geriatric Medicine, Karolinska Institute, Huddinge University Hospital Huddinge, Sweden 3Department of Human Molecular Genetics, National Public Health Institute Helsinki, Finland 4Department of Molecular Medicine, Karolinska Institute Stockholm, Sweden 5Department of Clinical Neurology and Neuroscience, Institute for Brain Research, University of Tokyo Japan |
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| Abstract: | This study addresses genetic factors associated with normalvariation of the CAG repeat in the Huntington disease (HD) gene.To achieve this, we have studied patterns of variation of threetrinucleotide repeats in the HD gene including the CAG and adjacentCCG repeats as well as a GAG polymorphism at residue 2642 ( |
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