Article
Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.
Molecular neurodegeneration - 29 May 2024
Pedicone Chiara, Weitzman Sarah A, Renton Alan E, Goate Alison M
Abstract excerpt
A ~ 1 Mb inversion polymorphism exists within the 17q21.31 locus of the human genome as direct (H1) and inverted (H2) haplotype clades. This inversion region demonstrates high linkage disequilibrium, but the frequency of each haplotype differs across ancestries. While the H1 haplotype exists in all populations and shows a normal pattern of genetic variability and recombination, the H2 haplotype is enriched in...
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