Article
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.
American journal of human genetics - 1 Mar 2009
Warby Simon C, Montpetit Alexandre, Hayden Anna R, Carroll Jeffrey B, Butland Stefanie L, Visscher Henk, Collins Jennifer A, Semaka Alicia, Hudson Thomas J, Hayden Michael R
Abstract excerpt
Huntington disease (HD) is an autosomal-dominant disorder that results from >or=36 CAG repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with <36 CAG repeats. This study is a comprehensive analysis of genetic diversity in HTT and reveals that HD patients of European origin (n = 65) have a significant enrichment (95%) of a...
Topics
- Asian People
- Black People
- Databases, Genetic
- Disease Susceptibility
- Female
- Humans
- Huntingtin Protein
- Huntington Disease
- Male
- Nerve Tissue Proteins
- Nuclear Proteins
- Polymorphism, Single Nucleotide
- Trinucleotide Repeats