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Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families.

Authors: Norremolle, A  Riess, O  Epplen, JT  Fenger, K  Hasholt, L  Sorensen, SA 
Citation: Norremolle A, etal., Hum Mol Genet. 1993 Sep;2(9):1475-6.
Pubmed: (View Article at PubMed) PMID:8242074

IT15 is a novel gene, localized to chromosome 4, and encoding a protein named Huntingtin. A polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to Huntington's Disease. We have investigated the CAG repeat in the Huntingtin gene in 71 unrelated Danish patients with Huntington's Disease, and found repeat lengths of 39 to 70 repeat units in contrast to 9 to 30 CAG's on normal chromosomes. Comparison of repeat length and age at onset of disease symptoms in 52 individuals indicates an inverse correlation between the age at onset and the number of CAG repeat units.

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RGD Object Information
RGD ID: 10403029
Created: 2015-11-04
Species: All species
Last Modified: 2015-11-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.