Association of an extended haplotype in the tau gene with progressive supranuclear palsy

Matt Baker, Irene Litvan, Henry Houlden, Jennifer Adamson, Dennis Dickson, Jordi Perez-Tur, John Hardy, Timothy Lynch, Eileen Bigio, Mike Hutton

Research output: Contribution to journalArticle

621 Scopus citations

Abstract

We describe two extended haplotypes that cover the human tau gene. In a total of ~ 200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers ~ 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.

Original languageEnglish (US)
Pages (from-to)711-715
Number of pages5
JournalHuman molecular genetics
Volume8
Issue number4
DOIs
StatePublished - 1999

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., & Hutton, M. (1999). Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Human molecular genetics, 8(4), 711-715. https://doi.org/10.1093/hmg/8.4.711