CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup

Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG repeats in the HD gene ( HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 2009-03, Vol.84 (3), p.351-366
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	African Continental Ancestry Group Asian Continental Ancestry Group Biological and medical sciences Databases, Genetic Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Susceptibility European Continental Ancestry Group Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Huntingtin Protein Huntington Disease - genetics Male Medical genetics Medical sciences Molecular and cellular biology Nerve Tissue Proteins - genetics Neurology Nuclear Proteins - genetics Polymorphism, Single Nucleotide Trinucleotide Repeats
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Beschreibung
Zusammenfassung:	Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG repeats in the HD gene ( HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with
ISSN:	0002-9297 1537-6605
DOI:	10.1016/j.ajhg.2009.02.003