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

被引：628
作者：
Baker, M
Litvan, I
Houlden, H
Adamson, J
Dickson, D
Perez-Tur, J
Hardy, J
Lynch, T
Bigio, E
Hutton, M
机构：
[1] Mayo Clin Jacksonville, Jacksonville, FL 32224 USA
[2] NINDS, NIH, Bethesda, MD 20892 USA
[3] Univ Texas, SW Med Ctr, Dallas, TX 75235 USA
[4] Mater Misericordiae Hosp, Dublin 7, Ireland
来源：
HUMAN MOLECULAR GENETICS | 1999年 / 8卷 / 04期
关键词：
D O I：
10.1093/hmg/8.4.711
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We describe two extended haplotypes that cover the human tau gene. In a total of similar to 200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers similar to 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 shaw 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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收藏
页码：711 / 715
页数：5
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