Sequence-Level Analysis of the Major European Huntington Disease Haplotype

Huntington disease (HD) reflects the dominant consequences of a CAG-repeat expansion in HTT. Analysis of common SNP-based haplotypes has revealed that most European HD subjects have distinguishable HTT haplotypes on their normal and disease chromosomes and that ∼50% of the latter share the same major HD haplotype. We reasoned that sequence-level investigation of this founder haplotype could provide significant insights into the history of HD and valuable information for gene-targeting approaches.

Source: The American Journal of Human Genetics - August 27, 2015 Category: Genetics & Stem Cells Authors: Jong-Min Lee, Kyung-Hee Kim, Aram Shin, Michael J. Chao, Kawther Abu Elneel, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Julia A. Kaye, Hengameh Zahed, Ian H. Kratter, Aaron C. Daub, Steven Finkbeiner, Hong Li, Jared C. Roach, Nathan Goodman, Leroy Tags: Article Source Type: research