Further extension of the H1 haplotype associated with progressive supranuclear palsy.
作者： Pau Pastor , Mario Ezquerra , Eduardo Tolosa , Esteban Muñoz , María José Martí
DOI: 10.1002/MDS.10076
关键词: Biology 、 Mutation 、 Genetics 、 Tau protein 、 Allele 、 Genotype 、 Haplotype 、 Exon 、 Progressive supranuclear palsy 、 Single-nucleotide polymorphism
摘要: The recent finding of disequilibrium among several polymorphisms along the tau gene and strong association one two haplotypes formed by these (H1) with progressive supranuclear palsy (PSP) suggests that a single allele in or near at 17q21 is responsible for increased risk most PSP cases. We sought to determine whether mutations are disease 45 sporadic patients. Furthermore, we analyzed some markers located common region linkage (D17S800-D17S791), associated cases familial frontotemporal dementia (FTDP-17), SNPs rs1816 rs937 close gene, their possible PSP. did not find pathogenic exons 9, 10, 12, 13 indicating both splice-site exon 10 microtubule-binding cause this study group. found significant overrepresentation H1, extended up promoter (H1P), patients as compared controls. In addition, D17S810 2/2 3/2 genotypes, SNP A/A, delG/delG genotypes was detected PSP, further extending haplotype described previously. These results consistent hypothesis change either 5' 3' flanking regions even other genes contained H1E haplotype, could increase genetic susceptibility
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