Sequence-Level Analysis of the Major European Huntington Disease Haplotype

• Published in: American journal of human genetics Vol. 97; no. 3; pp. 435 - 444
• Main Authors: Lee, Jong-Min, Kim, Kyung-Hee, Shin, Aram, Chao, Michael J., Abu Elneel, Kawther, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Kaye, Julia A., Zahed, Hengameh, Kratter, Ian H., Daub, Aaron C., Finkbeiner, Steven, Li, Hong, Roach, Jared C., Goodman, Nathan, Hood, Leroy, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.09.2015; Cell Press; Elsevier
• Subjects: Base Sequence; European Continental Ancestry Group - genetics; Evolution, Molecular; Founder Effect; Genomics; Haplotypes; Haplotypes - genetics; Heterozygote; Humans; Huntingtin Protein; Huntington Disease - genetics; Huntingtons disease; Molecular Sequence Data; Mutation; Nerve Tissue Proteins - genetics; Pedigree; Polymorphism, Single Nucleotide - genetics; Sequence Analysis, DNA; Trinucleotide Repeat Expansion - genetics; Europe

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 majo...