Human Molecular Genetics, Vol 8, 711-715, Copyright © 1999 by Oxford University Press
M Baker, I Litvan, H Houlden, J Adamson, D Dickson, J Perez-Tur, J Hardy, T Lynch, E Bigio and M Hutton
We describe two extended haplotypes that cover the human tau gene. In a
total of approximately 200 unrelated caucasian individuals there is
complete disequilibrium between polymorphisms which span the gene (which
covers approximately 100 kb of DNA). This suggests that the establishment
of the two haplotypes was an ancient event and either that recombination is
suppressed in this region, or that recombinant genes are selected against.
Furthermore, we show that the more common haplotype (H1) is significantly
over-represented in patients with progressive supranuclear palsy (PSP),
extending earlier reports of an association between an intronic
dinucleotide polymorphism and PSP.
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Association of an extended haplotype in the tau gene with progressive supranuclear palsy
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
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