Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15

Huntington's disease (HD) is an autosomal dominant disorder with a variable age of onset that is influenced by the sex of the affected parent. The recent recognition that HD is caused by an expanded triplet repeat suggests the possibility that the onset age may be predicted by the length of the...

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Bibliographic Details
Published in:Human molecular genetics 1993-10, Vol.2 (10), p.1547-1549
Main Authors: Stine, O.Collin, Pleasant, Nicole, Franz, Mary L., Abbott, Margaret H., Folstein, Susan E., Ross, Christopher A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Base Sequence
Biological and medical sciences
Child
Chromosomes, Human, Pair 4
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genes
Genes, Dominant
Humans
Huntington Disease - epidemiology
Huntington Disease - genetics
Huntington's chorea
Male
man
Medical sciences
Molecular Sequence Data
Neurology
Parents
relationship
Repetitive Sequences, Nucleic Acid
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Summary:Huntington's disease (HD) is an autosomal dominant disorder with a variable age of onset that is influenced by the sex of the affected parent. The recent recognition that HD is caused by an expanded triplet repeat suggests the possibility that the onset age may be predicted by the length of the repeat. This hypothesis was tested by assaying the length of the repeat in 114 individuals who were clinically diagnosed with HD and had a known onset age. Every individual had an expanded allele. The range was from 36 to 82 repeats (mean = 48.4 ± 9.51) and larger than the normal range (6 to 31). The size of the expanded allele was correlated with the age of onset (r = −0.65 p
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/2.10.1547