| Literature DB >> 10072441 |
M Baker1, I Litvan, H Houlden, J Adamson, D Dickson, J Perez-Tur, J Hardy, T Lynch, E Bigio, M Hutton.
Abstract
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.Entities:
Mesh：
Substances：
Year: 1999 PMID： 10072441 DOI： 10.1093/hmg/8.4.711
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150